Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Growth abnormality (HP:0001507)

Parent Node:
Abnormality of body height (HP:0000002)

Parent Node:
Growth delay (HP:0001510)

..Starting node
..Short stature (HP:0004322)

Term ID:

4322

Name:

Short stature

Synonym:

Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile

Definition:

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

Comments:

Reference:

HP:0004322

Genes and Diseases:

Child Nodes:

........

Pituitary dwarfism (HP:0000839)

........

Disproportionate short stature (HP:0003498)

................... HP:0003521 Disproportionate short-trunk short stature
................... HP:0008873 Disproportionate short-limb short stature

........

Proportionate short stature (HP:0003508)

................... HP:0003502 Mild short stature
................... HP:0003510 Severe short stature
................... HP:0008848 Moderately short stature

........

Birth length less than 3rd percentile (HP:0003561)

........

Asymmetric short stature (HP:0008929)

Sister Nodes:

Absent pubertal growth spurt (HP:0031087)

Delayed puberty (HP:0000823)

Intrauterine growth retardation (HP:0001511)

Postnatal growth retardation (HP:0008897)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0004322	HP:0004322	Short stature	0	A2ML1 CL E G H	144568	648				ORPHA	1	21	492	23336	610627
HP:0004322	HP:0004322	Short stature	0	AAAS CL E G H	8086	869				ORPHA	1	79	99	13666	605378
HP:0004322	HP:0004322	Short stature	0	AAAS CL E G H	8086	231550	Glucocorticoid deficiency with achalasia	231550	C0271742	OMIM	1	79	99	13666	605378
HP:0004322	HP:0004322	Short stature	0	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1	21		20	601065
HP:0004322	HP:0004322	Short stature	0	AASS CL E G H	10157	268700	Saccharopinuria	268700	C0268556	OMIM	1	14	66	17366	605113
HP:0004322	HP:0004322	Short stature	0	ABCB11 CL E G H	8647	601847	Progressive familial intrahepatic cholestasis 2	601847	C3489789	OMIM	1	331	460	42	603201
HP:0004322	HP:0004322	Short stature	0	ABHD5 CL E G H	51099	98907				ORPHA	1	39	155	21396	604780
HP:0004322	HP:0004322	Short stature	0	ACAN CL E G H	176	165800	Osteochondritis dissecans	165800	C0029421	OMIM	1	64	178	319	155760
HP:0004322	HP:0004322	Short stature	0	ACD CL E G H	65057	3322				ORPHA	1	9	135	25070	609377
HP:0004322	HP:0004322	Short stature	0	ACP5 CL E G H	54	607944	Spondyloenchondrodysplasia with immune dysregulation	607944	C1842763	OMIM	1	28	103	124	171640
HP:0004322	HP:0004322	Short stature	0	ACTB CL E G H	60	79107				ORPHA	1	65	224	132	102630
HP:0004322	HP:0004322	Short stature	0	ACTB CL E G H	60	243310	Baraitser-Winter syndrome 1	243310	C1855722	OMIM	1	65	224	132	102630
HP:0004322	HP:0004322	Short stature	0	ADAMTS10 CL E G H	81794	3449	Mehes syndrome			ORPHA	1	15	165	13201	608990
HP:0004322	HP:0004322	Short stature	0	ADAMTS17 CL E G H	170691	613195	Weill-Marchesani-like syndrome	613195	C2750787	OMIM	1	8	482	17109	607511
HP:0004322	HP:0004322	Short stature	0	ADAMTS2 CL E G H	9509	225410	Ehlers-Danlos syndrome, type vii, autosomal recessive	225410	C2700425	OMIM	1	12	577	218	604539
HP:0004322	HP:0004322	Short stature	0	ADAMTSL2 CL E G H	9719	231050	Geleophysic dysplasia 1	231050	C3278147	OMIM	1	28	210	14631	612277
HP:0004322	HP:0004322	Short stature	0	ADAR CL E G H	103	51				ORPHA	1	229	316	225	146920
HP:0004322	HP:0004322	Short stature	0	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	68	179	15766	611386
HP:0004322	HP:0004322	Short stature	0	AFF4 CL E G H	27125	616368	Chops syndrome	616368	C4085597	OMIM	1	3	66	17869	604417
HP:0004322	HP:0004322	Short stature	0	AGA CL E G H	175	208400	Aspartylglucosaminuria	208400	C0268225	OMIM	1	38	239	318	613228
HP:0004322	HP:0004322	Short stature	0	AGL CL E G H	178	366	Arnold Stickler Bourne syndrome			ORPHA	1	248	858	321	610860
HP:0004322	HP:0004322	Short stature	0	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	248	858	321	610860
HP:0004322	HP:0004322	Short stature	0	AHSG CL E G H	197	2850				ORPHA	1	6	57	349	138680
HP:0004322	HP:0004322	Short stature	0	ALDH18A1 CL E G H	5832	601162	Spastic paraplegia 9	601162	C1832669	OMIM	1	33	252	9722	138250
HP:0004322	HP:0004322	Short stature	0	ALDH18A1 CL E G H	5832	616586	Spastic paraplegia 9b, autosomal recessive	616586	C4225272	OMIM	1	33	252	9722	138250
HP:0004322	HP:0004322	Short stature	0	ALDH3A2 CL E G H	224	270200	Sjögren-Larsson syndrome	270200	C0037231	OMIM	1	111	308	403	609523
HP:0004322	HP:0004322	Short stature	0	ALDOA CL E G H	226	611881	HNSHA due to aldolase A deficiency	611881	C0272066	OMIM	1	8	306	414	103850
HP:0004322	HP:0004322	Short stature	0	ALMS1 CL E G H	7840	64				ORPHA	1	316	1745	428	606844
HP:0004322	HP:0004322	Short stature	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	316	1745	428	606844
HP:0004322	HP:0004322	Short stature	0	ALPL CL E G H	249	241510	Childhood hypophosphatasia	241510	C0220743	OMIM	1	295	328	438	171760
HP:0004322	HP:0004322	Short stature	0	AMER1 CL E G H	139285	300373	Osteopathia striata with cranial sclerosis	300373	C0432268	OMIM	1	41	219	26837	300647
HP:0004322	HP:0004322	Short stature	0	AMPD2 CL E G H	271	401805				ORPHA	1	18	98	469	102771
HP:0004322	HP:0004322	Short stature	0	ANK1 CL E G H	286	251066				ORPHA	1	111	388	492	612641
HP:0004322	HP:0004322	Short stature	0	ANKLE2 CL E G H	23141	2512				ORPHA	1	2	81	29101	616062
HP:0004322	HP:0004322	Short stature	0	ANKLE2 CL E G H	23141	616681	Microcephaly 16, primary, autosomal recessive	616681	C4225249	OMIM	1	2	81	29101	616062
HP:0004322	HP:0004322	Short stature	0	ANKRD11 CL E G H	29123	2332				ORPHA	1	134	721	21316	611192
HP:0004322	HP:0004322	Short stature	0	ANKRD11 CL E G H	29123	148050	KBG syndrome	148050	C0220687	OMIM	1	134	721	21316	611192
HP:0004322	HP:0004322	Short stature	0	ANTXR1 CL E G H	84168	2067				ORPHA	1	14	24	21014	606410
HP:0004322	HP:0004322	Short stature	0	AP4B1 CL E G H	10717	280763				ORPHA	1	21	140	572	607245
HP:0004322	HP:0004322	Short stature	0	AP4E1 CL E G H	23431	280763				ORPHA	1	18	178	573	607244
HP:0004322	HP:0004322	Short stature	0	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	18	178	573	607244
HP:0004322	HP:0004322	Short stature	0	AP4M1 CL E G H	9179	280763				ORPHA	1	15	150	574	602296
HP:0004322	HP:0004322	Short stature	0	AP4S1 CL E G H	11154	280763				ORPHA	1	8	59	575	607243
HP:0004322	HP:0004322	Short stature	0	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	8	59	575	607243
HP:0004322	HP:0004322	Short stature	0	AQP2 CL E G H	359	125800	Nephrogenic diabetes insipidus, autosomal	125800	C1563706	OMIM	1	66	176	634	107777
HP:0004322	HP:0004322	Short stature	0	ARID1A CL E G H	8289	1465				ORPHA	1	36	175	11110	603024
HP:0004322	HP:0004322	Short stature	0	ARID1B CL E G H	57492	1465				ORPHA	1	188	575	18040	614556
HP:0004322	HP:0004322	Short stature	0	ARID1B CL E G H	57492	251056				ORPHA	1	188	575	18040	614556
HP:0004322	HP:0004322	Short stature	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	188	575	18040	614556
HP:0004322	HP:0004322	Short stature	0	ARID2 CL E G H	196528	1465				ORPHA	1	11	115	18037	609539
HP:0004322	HP:0004322	Short stature	0	ARL6 CL E G H	84100	110				ORPHA	1	21	79	13210	608845
HP:0004322	HP:0004322	Short stature	0	ARNT2 CL E G H	9915	3157	Lachiewicz Sibley syndrome			ORPHA	1	6	49	16876	606036
HP:0004322	HP:0004322	Short stature	0	ARSE CL E G H	415	302950	Chondrodysplasia punctata 1, X-linked recessive	302950	C1844853	OMIM	1	46		719	300180
HP:0004322	HP:0004322	Short stature	0	ARVCF CL E G H	421	567				ORPHA	1	2	477	728	602269
HP:0004322	HP:0004322	Short stature	0	ARX CL E G H	170302	2508				ORPHA	1	98	466	18060	300382
HP:0004322	HP:0004322	Short stature	0	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	98	466	18060	300382
HP:0004322	HP:0004322	Short stature	0	ASAH1 CL E G H	427	333				ORPHA	1	71	306	735	613468
HP:0004322	HP:0004322	Short stature	0	ASL CL E G H	435	23	Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1		C2931135	ORPHA	1	169	264	746	608310
HP:0004322	HP:0004322	Short stature	0	ASPM CL E G H	259266	2512				ORPHA	1	213	790	19048	605481
HP:0004322	HP:0004322	Short stature	0	ASPM CL E G H	259266	608716	Primary autosomal recessive microcephaly 5	608716	C1837501	OMIM	1	213	790	19048	605481
HP:0004322	HP:0004322	Short stature	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	41	199	18318	612990
HP:0004322	HP:0004322	Short stature	0	ATM CL E G H	472	100				ORPHA	1	1324	8934	795	607585
HP:0004322	HP:0004322	Short stature	0	ATM CL E G H	472	208900	Ataxia-telangiectasia syndrome	208900	C0004135	OMIM	1	1324	8934	795	607585
HP:0004322	HP:0004322	Short stature	0	ATP6V0A2 CL E G H	23545	2834				ORPHA	1	56	309	18481	611716
HP:0004322	HP:0004322	Short stature	0	ATP6V0A2 CL E G H	23545	357074				ORPHA	1	56	309	18481	611716
HP:0004322	HP:0004322	Short stature	0	ATP6V0A2 CL E G H	23545	278250	Wrinkly skin syndrome	278250	C0406587	OMIM	1	56	309	18481	611716
HP:0004322	HP:0004322	Short stature	0	ATP6V1A CL E G H	523	357074				ORPHA	1	9	47	851	607027
HP:0004322	HP:0004322	Short stature	0	ATP6V1B2 CL E G H	526	616455	Zimmermann-Laband syndrome 2	616455	C4225321	OMIM	1	4	93	854	606939
HP:0004322	HP:0004322	Short stature	0	ATP6V1E1 CL E G H	529	357074				ORPHA	1	2	78	857	108746
HP:0004322	HP:0004322	Short stature	0	ATP6V1E1 CL E G H	529	617402	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	617402	C4479387	OMIM	1	2	78	857	108746
HP:0004322	HP:0004322	Short stature	0	ATP7A CL E G H	538	309400	Menkes kinky-hair syndrome	309400	C0022716	OMIM	1	357	607	869	300011
HP:0004322	HP:0004322	Short stature	0	ATP8A2 CL E G H	51761	1766				ORPHA	1	11	91	13533	605870
HP:0004322	HP:0004322	Short stature	0	ATPAF2 CL E G H	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	604273	C2700431	OMIM	1	2	187	18802	608918
HP:0004322	HP:0004322	Short stature	0	ATR CL E G H	545	808	Baker Vinters syndrome			ORPHA	1	34	404	882	601215
HP:0004322	HP:0004322	Short stature	0	ATRIP CL E G H	84126	808	Baker Vinters syndrome			ORPHA	1	2	183	33499	606605
HP:0004322	HP:0004322	Short stature	0	ATRX CL E G H	546	847				ORPHA	1	170	663	886	300032
HP:0004322	HP:0004322	Short stature	0	ATRX CL E G H	546	309580	Mental retardation-hypotonic facies syndrome X-linked, 1	309580	C0796003	OMIM	1	170	663	886	300032
HP:0004322	HP:0004322	Short stature	0	AUTS2 CL E G H	26053	615834	Mental retardation, autosomal dominant 26	615834	C4014435	OMIM	1	62	242	14262	607270
HP:0004322	HP:0004322	Short stature	0	AVPR2 CL E G H	554	304800	Nephrogenic diabetes insipidus, X-linked	304800	C1563705	OMIM	1	286	356	897	300538
HP:0004322	HP:0004322	Short stature	0	B3GALT6 CL E G H	126792	75496				ORPHA	1	40	232	17978	615291
HP:0004322	HP:0004322	Short stature	0	B3GALT6 CL E G H	126792	93359				ORPHA	1	40	232	17978	615291
HP:0004322	HP:0004322	Short stature	0	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	13	43	923	606374
HP:0004322	HP:0004322	Short stature	0	B4GALT7 CL E G H	11285	75496				ORPHA	1	9	138	930	604327
HP:0004322	HP:0004322	Short stature	0	B4GALT7 CL E G H	11285	130070	Ehlers-Danlos syndrome progeroid type	130070	C1869122	OMIM	1	9	138	930	604327
HP:0004322	HP:0004322	Short stature	0	BANF1 CL E G H	8815	614008	Nestor-Guillermo progeria syndrome	614008	C3151446	OMIM	1	1	36	17397	603811
HP:0004322	HP:0004322	Short stature	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	5	187	961	605681
HP:0004322	HP:0004322	Short stature	0	BBIP1 CL E G H	92482	110				ORPHA	1	1	43	28093	613605
HP:0004322	HP:0004322	Short stature	0	BBS1 CL E G H	582	110				ORPHA	1	105	309	966	209901
HP:0004322	HP:0004322	Short stature	0	BBS10 CL E G H	79738	110				ORPHA	1	109	317	26291	610148
HP:0004322	HP:0004322	Short stature	0	BBS12 CL E G H	166379	110				ORPHA	1	61	237	26648	610683
HP:0004322	HP:0004322	Short stature	0	BBS2 CL E G H	583	110				ORPHA	1	96	277	967	606151
HP:0004322	HP:0004322	Short stature	0	BBS4 CL E G H	585	110				ORPHA	1	54	217	969	600374
HP:0004322	HP:0004322	Short stature	0	BBS5 CL E G H	129880	110				ORPHA	1	31	86	970	603650
HP:0004322	HP:0004322	Short stature	0	BBS7 CL E G H	55212	110				ORPHA	1	44	175	18758	607590
HP:0004322	HP:0004322	Short stature	0	BBS9 CL E G H	27241	110				ORPHA	1	53	292	30000	607968
HP:0004322	HP:0004322	Short stature	0	BCOR CL E G H	54880	568	Aggressive fibromatosis			ORPHA	1	55	415	20893	300485
HP:0004322	HP:0004322	Short stature	0	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	55	415	20893	300485
HP:0004322	HP:0004322	Short stature	0	BCR CL E G H	613	261330				ORPHA	1	2	211	1014	151410
HP:0004322	HP:0004322	Short stature	0	BDNF CL E G H	627	893				ORPHA	1	35	43	1033	113505
HP:0004322	HP:0004322	Short stature	0	BLM CL E G H	641	125				ORPHA	1	131	1516	1058	604610
HP:0004322	HP:0004322	Short stature	0	BMP2 CL E G H	650	261295				ORPHA	1	37	69	1069	112261
HP:0004322	HP:0004322	Short stature	0	BMPR1B CL E G H	658	2639				ORPHA	1	24	195	1077	603248
HP:0004322	HP:0004322	Short stature	0	BMPR1B CL E G H	658	93388				ORPHA	1	24	195	1077	603248
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	500				ORPHA	1	68	490	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	648				ORPHA	1	68	490	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	68	490	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	68	490	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	613707	LEOPARD syndrome 3	613707	C3150971	OMIM	1	68	490	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	68	490	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRAF CL E G H	673	613706	Noonan syndrome 7	613706	C3150970	OMIM	1	68	490	1097	164757
HP:0004322	HP:0004322	Short stature	0	BRCA1 CL E G H	672	84				ORPHA	1	2824	11498	1100	113705
HP:0004322	HP:0004322	Short stature	0	BRCA2 CL E G H	675	84				ORPHA	1	3025	12706	1101	600185
HP:0004322	HP:0004322	Short stature	0	BRCA2 CL E G H	675	605724	Fanconi anemia, complementation group D1	605724	C1838457	OMIM	1	3025	12706	1101	600185
HP:0004322	HP:0004322	Short stature	0	BRF1 CL E G H	2972	616202	Cerebellofaciodental syndrome	616202	C4015495	OMIM	1	17	123	11551	604902
HP:0004322	HP:0004322	Short stature	0	BRIP1 CL E G H	83990	84				ORPHA	1	202	3050	20473	605882
HP:0004322	HP:0004322	Short stature	0	BTK CL E G H	695	47				ORPHA	1	910	421	1133	300300
HP:0004322	HP:0004322	Short stature	0	BTK CL E G H	695	307200	X-linked agammaglobulinemia with growth hormone deficiency	307200	C0472813	OMIM	1	910	421	1133	300300
HP:0004322	HP:0004322	Short stature	0	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	20	85	1148	602452
HP:0004322	HP:0004322	Short stature	0	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	29	323	1149	602860
HP:0004322	HP:0004322	Short stature	0	BUB1B CL E G H	701	257300	Mosaic variegated aneuploidy syndrome 1	257300	CN031748	OMIM	1	29	323	1149	602860
HP:0004322	HP:0004322	Short stature	0	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	6	49	1151	603719
HP:0004322	HP:0004322	Short stature	0	C1R CL E G H	715	75392				ORPHA	1	18	72	1246	613785
HP:0004322	HP:0004322	Short stature	0	C1S CL E G H	716	75392				ORPHA	1	10	84	1247	120580
HP:0004322	HP:0004322	Short stature	0	C8orf37 CL E G H	157657	110				ORPHA	1	17	119	27232	614477
HP:0004322	HP:0004322	Short stature	0	CA2 CL E G H	760	259730	Osteopetrosis with renal tubular acidosis	259730	C0345407	OMIM	1	31	76	1373	611492
HP:0004322	HP:0004322	Short stature	0	CA8 CL E G H	767	1766				ORPHA	1	4	45	1382	114815
HP:0004322	HP:0004322	Short stature	0	CASK CL E G H	8573	300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	300749	C2677903	OMIM	1	119	446	1497	300172
HP:0004322	HP:0004322	Short stature	0	CASP8 CL E G H	841	607271	Caspase-8 deficiency	607271	C1846545	OMIM	1	12	139	1509	601763
HP:0004322	HP:0004322	Short stature	0	CASR CL E G H	846	417	Aloi Tomasini Isaia syndrome			ORPHA	1	410	955	1514	601199
HP:0004322	HP:0004322	Short stature	0	CAV1 CL E G H	857	612526	Lipodystrophy, congenital generalized, type 3	612526	C2675861	OMIM	1	13	62	1527	601047
HP:0004322	HP:0004322	Short stature	0	CCDC22 CL E G H	28952	7	Typical Joubert syndrome MRI findings		CN228298	ORPHA	1	7	221	28909	300859
HP:0004322	HP:0004322	Short stature	0	CCDC8 CL E G H	83987	2616				ORPHA	1	3	36	25367	614145
HP:0004322	HP:0004322	Short stature	0	CCDC8 CL E G H	83987	614205	Three M syndrome 3	614205	C3280146	OMIM	1	3	36	25367	614145
HP:0004322	HP:0004322	Short stature	0	CCN6 CL E G H	8838	1159				ORPHA	1		67	12771	603400
HP:0004322	HP:0004322	Short stature	0	CCNQ CL E G H	92002	140952				ORPHA	1	11	228	28434	300708
HP:0004322	HP:0004322	Short stature	0	CCNQ CL E G H	92002	300707	STAR syndrome	300707	C2678045	OMIM	1	11	228	28434	300708
HP:0004322	HP:0004322	Short stature	0	CD96 CL E G H	10225	211750	C syndrome	211750	C0796095	OMIM	1	3	47	16892	606037
HP:0004322	HP:0004322	Short stature	0	CD96 CL E G H	10225	1308	Chorioretinopathy dominant form microcephaly			ORPHA	1	3	47	16892	606037
HP:0004322	HP:0004322	Short stature	0	CDC45 CL E G H	8318	617063	Meier-gorlin syndrome 7	617063	C4310738	OMIM	1	19	398	1739	603465
HP:0004322	HP:0004322	Short stature	0	CDCA7 CL E G H	83879	2268				ORPHA	1	6	46	14628	609937
HP:0004322	HP:0004322	Short stature	0	CDH3 CL E G H	1001	1573	Craniofacial dysostosis arthrogryposis progeroid appearence			ORPHA	1	31	244	1762	114021
HP:0004322	HP:0004322	Short stature	0	CDK10 CL E G H	8558	617694	AL KAISSI SYNDROME	617694	C4540156	OMIM	1	7	69	1770	603464
HP:0004322	HP:0004322	Short stature	0	CDK5RAP2 CL E G H	55755	2512				ORPHA	1	23	335	18672	608201
HP:0004322	HP:0004322	Short stature	0	CDK6 CL E G H	1021	2512				ORPHA	1	1	32	1777	603368
HP:0004322	HP:0004322	Short stature	0	CDKN1C CL E G H	1028	436144				ORPHA	1	81	471	1786	600856
HP:0004322	HP:0004322	Short stature	0	CDON CL E G H	50937	95496				ORPHA	1	13	391	17104	608707
HP:0004322	HP:0004322	Short stature	0	CDON CL E G H	50937	280200				ORPHA	1	13	391	17104	608707
HP:0004322	HP:0004322	Short stature	0	CDSN CL E G H	1041	270300	Peeling skin syndrome	270300	C1849193	OMIM	1	16	37	1802	602593
HP:0004322	HP:0004322	Short stature	0	CENPE CL E G H	1062	808	Baker Vinters syndrome			ORPHA	1	4	100	1856	117143
HP:0004322	HP:0004322	Short stature	0	CENPE CL E G H	1062	616051	Primary autosomal recessive microcephaly 13	616051	C4015080	OMIM	1	4	100	1856	117143
HP:0004322	HP:0004322	Short stature	0	CENPJ CL E G H	55835	2512				ORPHA	1	10	285	17272	609279
HP:0004322	HP:0004322	Short stature	0	CENPJ CL E G H	55835	808	Baker Vinters syndrome			ORPHA	1	10	285	17272	609279
HP:0004322	HP:0004322	Short stature	0	CENPJ CL E G H	55835	613676	Seckel syndrome 4	613676	C3888212	OMIM	1	10	285	17272	609279
HP:0004322	HP:0004322	Short stature	0	CEP135 CL E G H	9662	2512				ORPHA	1	4	88	29086	611423
HP:0004322	HP:0004322	Short stature	0	CEP152 CL E G H	22995	2512				ORPHA	1	20	252	29298	613529
HP:0004322	HP:0004322	Short stature	0	CEP152 CL E G H	22995	808	Baker Vinters syndrome			ORPHA	1	20	252	29298	613529
HP:0004322	HP:0004322	Short stature	0	CEP152 CL E G H	22995	613823	Seckel syndrome 5	613823	C3151187	OMIM	1	20	252	29298	613529
HP:0004322	HP:0004322	Short stature	0	CEP164 CL E G H	22897	3156				ORPHA	1	9	245	29182	614848
HP:0004322	HP:0004322	Short stature	0	CEP290 CL E G H	80184	110				ORPHA	1	310	884	29021	610142
HP:0004322	HP:0004322	Short stature	0	CEP290 CL E G H	80184	3156				ORPHA	1	310	884	29021	610142
HP:0004322	HP:0004322	Short stature	0	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	5	155	30794	607951
HP:0004322	HP:0004322	Short stature	0	CEP57 CL E G H	9702	614114	Mosaic variegated aneuploidy syndrome 2	614114	C3279843	OMIM	1	5	155	30794	607951
HP:0004322	HP:0004322	Short stature	0	CEP63 CL E G H	80254	2512				ORPHA	1	2	93	25815	614724
HP:0004322	HP:0004322	Short stature	0	CEP63 CL E G H	80254	614728	Seckel syndrome 6	614728	C3553582	OMIM	1	2	93	25815	614724
HP:0004322	HP:0004322	Short stature	0	CFAP410 CL E G H	755	602271	Spondylometaphyseal dysplasia axial	602271	C1865695	OMIM	1		172	1260	603191
HP:0004322	HP:0004322	Short stature	0	CHCHD10 CL E G H	400916	457050				ORPHA	1	27	163	15559	615903
HP:0004322	HP:0004322	Short stature	0	CHCHD10 CL E G H	400916	616209	Myopathy, isolated mitochondrial, autosomal dominant	616209	C4015513	OMIM	1	27	163	15559	615903
HP:0004322	HP:0004322	Short stature	0	CHD4 CL E G H	1108	617159	Sifrim-Hitz-Weiss syndrome	617159	C4310688	OMIM	1	23	134	1919	603277
HP:0004322	HP:0004322	Short stature	0	CHD7 CL E G H	55636	138				ORPHA	1	884	1266	20626	608892
HP:0004322	HP:0004322	Short stature	0	CHRNG CL E G H	1146	2990				ORPHA	1	35	160	1967	100730
HP:0004322	HP:0004322	Short stature	0	CHRNG CL E G H	1146	265000	Multiple pterygium syndrome Escobar type	265000	C0265261	OMIM	1	35	160	1967	100730
HP:0004322	HP:0004322	Short stature	0	CHST3 CL E G H	9469	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	39	265	1971	603799
HP:0004322	HP:0004322	Short stature	0	CIT CL E G H	11113	2512				ORPHA	1	15	113	1985	605629
HP:0004322	HP:0004322	Short stature	0	CIT CL E G H	11113	617090	Microcephaly 17, primary, autosomal recessive	617090	C4310723	OMIM	1	15	113	1985	605629
HP:0004322	HP:0004322	Short stature	0	CLCN5 CL E G H	1184	300009	Dent disease 1	300009	C1848336	OMIM	1	274	359	2023	300008
HP:0004322	HP:0004322	Short stature	0	CLCN5 CL E G H	1184	300554	Hypophosphatemic rickets, X-linked recessive	300554	C1845168	OMIM	1	274	359	2023	300008
HP:0004322	HP:0004322	Short stature	0	CLCN5 CL E G H	1184	308990	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	308990	C1839874	OMIM	1	274	359	2023	300008
HP:0004322	HP:0004322	Short stature	0	CLCN7 CL E G H	1186	53				ORPHA	1	100	268	2025	602727
HP:0004322	HP:0004322	Short stature	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	174	2586	603432
HP:0004322	HP:0004322	Short stature	0	CLMP CL E G H	79827	2301				ORPHA	1	13	66	24039	611693
HP:0004322	HP:0004322	Short stature	0	COG4 CL E G H	25839	85172				ORPHA	1	6	141	18620	606976
HP:0004322	HP:0004322	Short stature	0	COL11A1 CL E G H	1301	560				ORPHA	1	106	560	2186	120280
HP:0004322	HP:0004322	Short stature	0	COL11A1 CL E G H	1301	2021				ORPHA	1	106	560	2186	120280
HP:0004322	HP:0004322	Short stature	0	COL11A1 CL E G H	1301	250984				ORPHA	1	106	560	2186	120280
HP:0004322	HP:0004322	Short stature	0	COL11A1 CL E G H	1301	154780	Marshall syndrome	154780	C0265235	OMIM	1	106	560	2186	120280
HP:0004322	HP:0004322	Short stature	0	COL11A2 CL E G H	1302	2021				ORPHA	1	59	471	2187	120290
HP:0004322	HP:0004322	Short stature	0	COL11A2 CL E G H	1302	215150	Otospondylomegaepiphyseal dysplasia	215150	C0432210	OMIM	1	59	471	2187	120290
HP:0004322	HP:0004322	Short stature	0	COL1A1 CL E G H	1277	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	967	1105	2197	120150
HP:0004322	HP:0004322	Short stature	0	COL1A2 CL E G H	1278	166220	Osteogenesis imperfecta with normal sclerae, dominant form	166220	C0268363	OMIM	1	523	794	2198	120160
HP:0004322	HP:0004322	Short stature	0	COL27A1 CL E G H	85301	615155	Steel syndrome	615155	C3554594	OMIM	1	8	258	22986	608461
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	1856				ORPHA	1	570	731	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	85198				ORPHA	1	570	731	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	93316				ORPHA	1	570	731	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	94068				ORPHA	1	570	731	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	150600	Coxa plana	150600	C0023234	OMIM	1	570	731	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	132450	C1851536	OMIM	1	570	731	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	2380	Freiberg's disease			ORPHA	1	570	731	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	604864	Osteoarthritis with mild chondrodysplasia	604864	C1858079	OMIM	1	570	731	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL2A1 CL E G H	1280	271700	Spondyloperipheral dysplasia	271700	C0796173	OMIM	1	570	731	2200	120140
HP:0004322	HP:0004322	Short stature	0	COL3A1 CL E G H	1281	130050	Ehlers-Danlos syndrome, type 4	130050	C0268338	OMIM	1	645	1647	2201	120180
HP:0004322	HP:0004322	Short stature	0	COL3A1 CL E G H	1281	2500	Glucocorticoid sensitive hypertension			ORPHA	1	645	1647	2201	120180
HP:0004322	HP:0004322	Short stature	0	COL3A1 CL E G H	1281	286	Imaizumi Kuroki syndrome			ORPHA	1	645	1647	2201	120180
HP:0004322	HP:0004322	Short stature	0	COL5A1 CL E G H	1289	130000	Ehlers-Danlos syndrome, classic type	130000	C0268335	OMIM	1	159	1630	2209	120215
HP:0004322	HP:0004322	Short stature	0	COL5A1 CL E G H	1289	286	Imaizumi Kuroki syndrome			ORPHA	1	159	1630	2209	120215
HP:0004322	HP:0004322	Short stature	0	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	191	1148	2212	120240
HP:0004322	HP:0004322	Short stature	0	COL9A1 CL E G H	1297	166002				ORPHA	1	6	281	2217	120210
HP:0004322	HP:0004322	Short stature	0	COL9A1 CL E G H	1297	250984				ORPHA	1	6	281	2217	120210
HP:0004322	HP:0004322	Short stature	0	COL9A1 CL E G H	1297	614134	Stickler syndrome, type 4	614134	C3279941	OMIM	1	6	281	2217	120210
HP:0004322	HP:0004322	Short stature	0	COL9A2 CL E G H	1298	166002				ORPHA	1	13	215	2218	120260
HP:0004322	HP:0004322	Short stature	0	COL9A2 CL E G H	1298	250984				ORPHA	1	13	215	2218	120260
HP:0004322	HP:0004322	Short stature	0	COL9A2 CL E G H	1298	614284	Stickler syndrome, type 5	614284	C3280342	OMIM	1	13	215	2218	120260
HP:0004322	HP:0004322	Short stature	0	COL9A3 CL E G H	1299	166002				ORPHA	1	17	184	2219	120270
HP:0004322	HP:0004322	Short stature	0	COL9A3 CL E G H	1299	250984				ORPHA	1	17	184	2219	120270
HP:0004322	HP:0004322	Short stature	0	COLEC10 CL E G H	10584	248340	Malpuech facial clefting syndrome	248340	C0796032	OMIM	1	4	53	2220	607620
HP:0004322	HP:0004322	Short stature	0	COMT CL E G H	1312	567				ORPHA	1	15	555	2228	116790
HP:0004322	HP:0004322	Short stature	0	COPB2 CL E G H	9276	2512				ORPHA	1	4	33	2232	606990
HP:0004322	HP:0004322	Short stature	0	COX7B CL E G H	1349	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	5	164	2291	300885
HP:0004322	HP:0004322	Short stature	0	COX7B CL E G H	1349	300887	Linear skin defects with multiple congenital anomalies 2	300887	C3550921	OMIM	1	5	164	2291	300885
HP:0004322	HP:0004322	Short stature	0	CPLANE1 CL E G H	65250	2754				ORPHA	1	118	594	25801	614571
HP:0004322	HP:0004322	Short stature	0	CPLANE1 CL E G H	65250	277170	Orofaciodigital syndrome 6	277170	C2745997	OMIM	1	118	594	25801	614571
HP:0004322	HP:0004322	Short stature	0	CPLX1 CL E G H	10815	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	3	143	2309	605032
HP:0004322	HP:0004322	Short stature	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	364	755	2348	600140
HP:0004322	HP:0004322	Short stature	0	CRKL CL E G H	1399	261330				ORPHA	1	16	376	2363	602007
HP:0004322	HP:0004322	Short stature	0	CTBP1 CL E G H	1487	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	1	164	2494	602618
HP:0004322	HP:0004322	Short stature	0	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	34	544	26169	613129
HP:0004322	HP:0004322	Short stature	0	CTC1 CL E G H	80169	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	34	544	26169	613129
HP:0004322	HP:0004322	Short stature	0	CTCF CL E G H	10664	615502	Mental retardation, autosomal dominant 21	615502	C3809686	OMIM	1	18	96	13723	604167
HP:0004322	HP:0004322	Short stature	0	CTDP1 CL E G H	9150	48431				ORPHA	1	1	247	2498	604927
HP:0004322	HP:0004322	Short stature	0	CTDP1 CL E G H	9150	604168	Congenital Cataracts, Facial Dysmorphism, and Neuropathy	604168	C1858726	OMIM	1	1	247	2498	604927
HP:0004322	HP:0004322	Short stature	0	CTNND2 CL E G H	1501	281	Ramer Ladda syndrome			ORPHA	1	37	161	2516	604275
HP:0004322	HP:0004322	Short stature	0	CTNS CL E G H	1497	219800	Nephropathic cystinosis	219800	C0010690	OMIM	1	160	418	2518	606272
HP:0004322	HP:0004322	Short stature	0	CTSK CL E G H	1513	763				ORPHA	1	58	97	2536	601105
HP:0004322	HP:0004322	Short stature	0	CTSK CL E G H	1513	265800	Pyknodysostosis	265800	C0238402	OMIM	1	58	97	2536	601105
HP:0004322	HP:0004322	Short stature	0	CUL4B CL E G H	8450	85293				ORPHA	1	40	247	2555	300304
HP:0004322	HP:0004322	Short stature	0	CUL4B CL E G H	8450	300354	Syndromic X-linked mental retardation, Cabezas type	300354	C1845861	OMIM	1	40	247	2555	300304
HP:0004322	HP:0004322	Short stature	0	CUL7 CL E G H	9820	2616				ORPHA	1	85	248	21024	609577
HP:0004322	HP:0004322	Short stature	0	CUL7 CL E G H	9820	273750	Three M syndrome 1	273750	C1848862	OMIM	1	85	248	21024	609577
HP:0004322	HP:0004322	Short stature	0	CWC27 CL E G H	10283	250410	Retinitis pigmentosa with or without skeletal anomalies	250410	C1855188	OMIM	1	7	53	10664	617170
HP:0004322	HP:0004322	Short stature	0	CYB5A CL E G H	1528	90796				ORPHA	1	7	142	2570	613218
HP:0004322	HP:0004322	Short stature	0	CYP11B1 CL E G H	1584	90795				ORPHA	1	161	322	2591	610613
HP:0004322	HP:0004322	Short stature	0	CYP11B1 CL E G H	1584	202010	Deficiency of steroid 11-beta-monooxygenase	202010	C0268292	OMIM	1	161	322	2591	610613
HP:0004322	HP:0004322	Short stature	0	CYP17A1 CL E G H	1586	90793				ORPHA	1	130	127	2593	609300
HP:0004322	HP:0004322	Short stature	0	CYP17A1 CL E G H	1586	90796				ORPHA	1	130	127	2593	609300
HP:0004322	HP:0004322	Short stature	0	CYP19A1 CL E G H	1588	139300	Familial gynecomastia, due to increased aromatase activity	139300	C1970109	OMIM	1	73	151	2594	107910
HP:0004322	HP:0004322	Short stature	0	DDHD2 CL E G H	23259	615033	Spastic paraplegia 54, autosomal recessive	615033	C3539495	OMIM	1	19	152	29106	615003
HP:0004322	HP:0004322	Short stature	0	DDOST CL E G H	1650	300536				ORPHA	1	2	106	2728	602202
HP:0004322	HP:0004322	Short stature	0	DEAF1 CL E G H	10522	819				ORPHA	1	17	129	14677	602635
HP:0004322	HP:0004322	Short stature	0	DHCR7 CL E G H	1717	270400	Smith-Lemli-Opitz syndrome	270400	C0175694	OMIM	1	218	376	2860	602858
HP:0004322	HP:0004322	Short stature	0	DIAPH1 CL E G H	1729	616632	Seizures, cortical blindness, and microcephaly syndrome	616632	C4225261	OMIM	1	15	359	2876	602121
HP:0004322	HP:0004322	Short stature	0	DISP1 CL E G H	84976	280200				ORPHA	1	11	100	19711	607502
HP:0004322	HP:0004322	Short stature	0	DKC1 CL E G H	1736	3322				ORPHA	1	75	322	2890	300126
HP:0004322	HP:0004322	Short stature	0	DKC1 CL E G H	1736	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	75	322	2890	300126
HP:0004322	HP:0004322	Short stature	0	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	75	322	2890	300126
HP:0004322	HP:0004322	Short stature	0	DLL1 CL E G H	28514	280200				ORPHA	1	19	132	2908	606582
HP:0004322	HP:0004322	Short stature	0	DLL3 CL E G H	10683	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	26	126	2909	602768
HP:0004322	HP:0004322	Short stature	0	DMP1 CL E G H	1758	289176				ORPHA	1	11	107	2932	600980
HP:0004322	HP:0004322	Short stature	0	DMXL2 CL E G H	23312	616113	Polyendocrine-polyneuropathy syndrome	616113	C4015261	OMIM	1	9	103	2938	612186
HP:0004322	HP:0004322	Short stature	0	DNA2 CL E G H	1763	615807	Seckel syndrome 8	615807	C3891452	OMIM	1	8	146	2939	601810
HP:0004322	HP:0004322	Short stature	0	DNAJC21 CL E G H	134218	811	Balo disease			ORPHA	1	11	60	27030	617048
HP:0004322	HP:0004322	Short stature	0	DNAJC21 CL E G H	134218	617052	Bone marrow failure syndrome 3	617052	C4310744	OMIM	1	11	60	27030	617048
HP:0004322	HP:0004322	Short stature	0	DNAJC21 CL E G H	134218	260400	Shwachman syndrome	260400	C0272170	OMIM	1	11	60	27030	617048
HP:0004322	HP:0004322	Short stature	0	DNAJC3 CL E G H	5611	445062				ORPHA	1	4	80	9439	601184
HP:0004322	HP:0004322	Short stature	0	DNAJC3 CL E G H	5611	616192	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	616192	C4015436	OMIM	1	4	80	9439	601184
HP:0004322	HP:0004322	Short stature	0	DNMT3B CL E G H	1789	2268				ORPHA	1	57	267	2979	602900
HP:0004322	HP:0004322	Short stature	0	DNMT3B CL E G H	1789	242860	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency	242860	C0398788	OMIM	1	57	267	2979	602900
HP:0004322	HP:0004322	Short stature	0	DPF2 CL E G H	5977	1465				ORPHA	1	9	14	9964	601671
HP:0004322	HP:0004322	Short stature	0	DPH1 CL E G H	1801	616901	Developmental delay with short stature, dysmorphic features, and sparse hair	616901	C4310801	OMIM	1	6	92	3003	603527
HP:0004322	HP:0004322	Short stature	0	DPP6 CL E G H	1804	2514				ORPHA	1	11	81	3010	126141
HP:0004322	HP:0004322	Short stature	0	DPP6 CL E G H	1804	616311	Mental retardation, autosomal dominant 33	616311	C4225375	OMIM	1	11	81	3010	126141
HP:0004322	HP:0004322	Short stature	0	DUOX2 CL E G H	50506	95716				ORPHA	1	185	306	13273	606759
HP:0004322	HP:0004322	Short stature	0	DUOXA2 CL E G H	405753	95716				ORPHA	1	18	54	32698	612772
HP:0004322	HP:0004322	Short stature	0	DVL3 CL E G H	1857	616894	Robinow syndrome, autosomal dominant 3	616894	C4225164	OMIM	1	15	77	3087	601368
HP:0004322	HP:0004322	Short stature	0	DYNC2H1 CL E G H	79659	613091	Short-rib thoracic dysplasia 3 with or without polydactyly	613091	C2751311	OMIM	1	207	889	2962	603297
HP:0004322	HP:0004322	Short stature	0	DYNC2LI1 CL E G H	51626	617088	Short-rib thoracic dysplasia 15 with polydactyly	617088	C4310724	OMIM	1	14	173	24595	617083
HP:0004322	HP:0004322	Short stature	0	EBP CL E G H	10682	300960	MEND syndrome	300960	C4085243	OMIM	1	91	237	3133	300205
HP:0004322	HP:0004322	Short stature	0	ECEL1 CL E G H	9427	615065	Distal arthrogryposis type 5D	615065	C3554415	OMIM	1	33	106	3147	605896
HP:0004322	HP:0004322	Short stature	0	EFL1 CL E G H	79631	811	Balo disease			ORPHA	1	3	57	25789	617538
HP:0004322	HP:0004322	Short stature	0	EFNB1 CL E G H	1947	304110	Craniofrontonasal dysplasia	304110	C0220767	OMIM	1	118	181	3226	300035
HP:0004322	HP:0004322	Short stature	0	EFTUD2 CL E G H	9343	79113				ORPHA	1	101	124	30858	603892
HP:0004322	HP:0004322	Short stature	0	EFTUD2 CL E G H	9343	610536	Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate	610536	C1864652	OMIM	1	101	124	30858	603892
HP:0004322	HP:0004322	Short stature	0	EHHADH CL E G H	1962	615605	Fanconi renotubular syndrome 3	615605	C3810100	OMIM	1	1	155	3247	607037
HP:0004322	HP:0004322	Short stature	0	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	81	125	3255	604032
HP:0004322	HP:0004322	Short stature	0	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	81	125	3255	604032
HP:0004322	HP:0004322	Short stature	0	EIF4A3 CL E G H	9775	268305	Richieri Costa Pereira syndrome	268305	C1849348	OMIM	1	2	34	18683	608546
HP:0004322	HP:0004322	Short stature	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	127	523	3327	130160
HP:0004322	HP:0004322	Short stature	0	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	127	523	3327	130160
HP:0004322	HP:0004322	Short stature	0	EMG1 CL E G H	10436	1270				ORPHA	1	1	59	16912	611531
HP:0004322	HP:0004322	Short stature	0	ENPP1 CL E G H	5167	289176				ORPHA	1	77	274	3356	173335
HP:0004322	HP:0004322	Short stature	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	107	415	3373	602700
HP:0004322	HP:0004322	Short stature	0	EPG5 CL E G H	57724	1493	Congenital mesoblastic nephroma			ORPHA	1	68	495	29331	615068
HP:0004322	HP:0004322	Short stature	0	ERCC1 CL E G H	2067	1466				ORPHA	1	8	53	3433	126380
HP:0004322	HP:0004322	Short stature	0	ERCC1 CL E G H	2067	610758	Cerebrooculofacioskeletal syndrome 4	610758	C1853100	OMIM	1	8	53	3433	126380
HP:0004322	HP:0004322	Short stature	0	ERCC2 CL E G H	2068	1466				ORPHA	1	108	227	3434	126340
HP:0004322	HP:0004322	Short stature	0	ERCC2 CL E G H	2068	220295				ORPHA	1	108	227	3434	126340
HP:0004322	HP:0004322	Short stature	0	ERCC2 CL E G H	2068	601675	Trichothiodystrophy 1, photosensitive	601675	C1866504	OMIM	1	108	227	3434	126340
HP:0004322	HP:0004322	Short stature	0	ERCC3 CL E G H	2071	220295				ORPHA	1	20	122	3435	133510
HP:0004322	HP:0004322	Short stature	0	ERCC3 CL E G H	2071	616390	Trichothiodystrophy 2, photosensitive	616390	C4225344	OMIM	1	20	122	3435	133510
HP:0004322	HP:0004322	Short stature	0	ERCC3 CL E G H	2071	610651	Xeroderma pigmentosum, complementation group b	610651	C1970808	OMIM	1	20	122	3435	133510
HP:0004322	HP:0004322	Short stature	0	ERCC4 CL E G H	2072	84				ORPHA	1	72	348	3436	133520
HP:0004322	HP:0004322	Short stature	0	ERCC4 CL E G H	2072	220295				ORPHA	1	72	348	3436	133520
HP:0004322	HP:0004322	Short stature	0	ERCC4 CL E G H	2072	615272	Fanconi anemia, complementation group Q	615272	C3808988	OMIM	1	72	348	3436	133520
HP:0004322	HP:0004322	Short stature	0	ERCC5 CL E G H	2073	1466				ORPHA	1	59	263	3437	133530
HP:0004322	HP:0004322	Short stature	0	ERCC5 CL E G H	2073	220295				ORPHA	1	59	263	3437	133530
HP:0004322	HP:0004322	Short stature	0	ERCC6 CL E G H	2074	1466				ORPHA	1	140	499	3438	609413
HP:0004322	HP:0004322	Short stature	0	ESCO2 CL E G H	157570	269000	Roberts-SC phocomelia syndrome	269000	C0392475	OMIM	1	31	215	27230	609353
HP:0004322	HP:0004322	Short stature	0	EXT1 CL E G H	2131	321				ORPHA	1	532	409	3512	608177
HP:0004322	HP:0004322	Short stature	0	EXT1 CL E G H	2131	502	Acromegaloid hypertrichosis syndrome			ORPHA	1	532	409	3512	608177
HP:0004322	HP:0004322	Short stature	0	EXT1 CL E G H	2131	133700	Multiple congenital exostosis	133700	C0015306	OMIM	1	532	409	3512	608177
HP:0004322	HP:0004322	Short stature	0	EXT2 CL E G H	2132	321				ORPHA	1	258	275	3513	608210
HP:0004322	HP:0004322	Short stature	0	EXT2 CL E G H	2132	133701	Multiple exostoses type 2	133701	C1851413	OMIM	1	258	275	3513	608210
HP:0004322	HP:0004322	Short stature	0	EYA1 CL E G H	2138	2792	Hyperbilirubinemia type 1			ORPHA	1	221	290	3519	601653
HP:0004322	HP:0004322	Short stature	0	FAM111A CL E G H	63901	93325				ORPHA	1	9	41	24725	615292
HP:0004322	HP:0004322	Short stature	0	FAM111A CL E G H	63901	602361	Gracile bone dysplasia	602361	C1865639	OMIM	1	9	41	24725	615292
HP:0004322	HP:0004322	Short stature	0	FAM20C CL E G H	56975	259775	Raine syndrome	259775	C1850106	OMIM	1	28	139	22140	611061
HP:0004322	HP:0004322	Short stature	0	FANCA CL E G H	2175	84				ORPHA	1	689	1706	3582	607139
HP:0004322	HP:0004322	Short stature	0	FANCA CL E G H	2175	227650	Fanconi anemia, complementation group A	227650	C3469521	OMIM	1	689	1706	3582	607139
HP:0004322	HP:0004322	Short stature	0	FANCB CL E G H	2187	84				ORPHA	1	21	352	3583	300515
HP:0004322	HP:0004322	Short stature	0	FANCC CL E G H	2176	84				ORPHA	1	65	882	3584	613899
HP:0004322	HP:0004322	Short stature	0	FANCC CL E G H	2176	227645	Fanconi anemia, complementation group C	227645	C3468041	OMIM	1	65	882	3584	613899
HP:0004322	HP:0004322	Short stature	0	FANCD2 CL E G H	2177	84				ORPHA	1	64	429	3585	613984
HP:0004322	HP:0004322	Short stature	0	FANCD2 CL E G H	2177	227646	Fanconi anemia, complementation group D2	227646	C3160738	OMIM	1	64	429	3585	613984
HP:0004322	HP:0004322	Short stature	0	FANCE CL E G H	2178	84				ORPHA	1	17	201	3586	613976
HP:0004322	HP:0004322	Short stature	0	FANCE CL E G H	2178	600901	Fanconi anemia, complementation group E	600901	C3160739	OMIM	1	17	201	3586	613976
HP:0004322	HP:0004322	Short stature	0	FANCF CL E G H	2188	84				ORPHA	1	16	202	3587	613897
HP:0004322	HP:0004322	Short stature	0	FANCG CL E G H	2189	84				ORPHA	1	92	325	3588	602956
HP:0004322	HP:0004322	Short stature	0	FANCI CL E G H	55215	84				ORPHA	1	45	521	25568	611360
HP:0004322	HP:0004322	Short stature	0	FANCL CL E G H	55120	84				ORPHA	1	24	176	20748	608111
HP:0004322	HP:0004322	Short stature	0	FANCM CL E G H	57697	84				ORPHA	1	53	697	23168	609644
HP:0004322	HP:0004322	Short stature	0	FAS CL E G H	355	3437				ORPHA	1	142	169	11920	134637
HP:0004322	HP:0004322	Short stature	0	FBN1 CL E G H	2200	2084				ORPHA	1	2721	4284	3603	134797
HP:0004322	HP:0004322	Short stature	0	FBN1 CL E G H	2200	614185	Geleophysic dysplasia 2	614185	C3280054	OMIM	1	2721	4284	3603	134797
HP:0004322	HP:0004322	Short stature	0	FBN1 CL E G H	2200	3449	Mehes syndrome			ORPHA	1	2721	4284	3603	134797
HP:0004322	HP:0004322	Short stature	0	FGD1 CL E G H	2245	915				ORPHA	1	51	276	3663	300546
HP:0004322	HP:0004322	Short stature	0	FGF23 CL E G H	8074	193100	Autosomal dominant hypophosphatemic rickets	193100	C0342642	OMIM	1	20	141	3680	605380
HP:0004322	HP:0004322	Short stature	0	FGF8 CL E G H	2253	280200				ORPHA	1	41	54	3686	600483
HP:0004322	HP:0004322	Short stature	0	FGFR1 CL E G H	2260	280200				ORPHA	1	265	388	3688	136350
HP:0004322	HP:0004322	Short stature	0	FGFR1 CL E G H	2260	147950	Kallmann syndrome 2	147950	C1563720	OMIM	1	265	388	3688	136350
HP:0004322	HP:0004322	Short stature	0	FGFR1 CL E G H	2260	3157	Lachiewicz Sibley syndrome			ORPHA	1	265	388	3688	136350
HP:0004322	HP:0004322	Short stature	0	FGFR2 CL E G H	2263	101400	Saethre-Chotzen syndrome	101400	C0175699	OMIM	1	159	336	3689	176943
HP:0004322	HP:0004322	Short stature	0	FGFR3 CL E G H	2261	93274				ORPHA	1	77	431	3690	134934
HP:0004322	HP:0004322	Short stature	0	FGFRL1 CL E G H	53834	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	7	199	3693	605830
HP:0004322	HP:0004322	Short stature	0	FIG4 CL E G H	9896	3472	Meningococcemia			ORPHA	1	71	425	16873	609390
HP:0004322	HP:0004322	Short stature	0	FKBP10 CL E G H	60681	259450	Bruck syndrome 1	259450	C1850168	OMIM	1	44	161	18169	607063
HP:0004322	HP:0004322	Short stature	0	FKBP10 CL E G H	60681	2771	Hydrocephalus costovertebral dysplasia Sprengel anomaly			ORPHA	1	44	161	18169	607063
HP:0004322	HP:0004322	Short stature	0	FKBP10 CL E G H	60681	610968	Osteogenesis imperfecta, type XI	610968	C3151218	OMIM	1	44	161	18169	607063
HP:0004322	HP:0004322	Short stature	0	FLCN CL E G H	201163	610883	Chromosome 17, trisomy 17p11 2	610883	C2931246	OMIM	1	215	1036	27310	607273
HP:0004322	HP:0004322	Short stature	0	FLI1 CL E G H	2313	2308	Fetal minoxidil syndrome			ORPHA	1	7	125	3749	193067
HP:0004322	HP:0004322	Short stature	0	FLII CL E G H	2314	819				ORPHA	1	2	153	3750	600362
HP:0004322	HP:0004322	Short stature	0	FLNA CL E G H	2316	2301				ORPHA	1	271	1472	3754	300017
HP:0004322	HP:0004322	Short stature	0	FLNA CL E G H	2316	2484	Glaucoma type 1C			ORPHA	1	271	1472	3754	300017
HP:0004322	HP:0004322	Short stature	0	FLNA CL E G H	2316	311300	Oto-palato-digital syndrome, type I	311300	C0265251	OMIM	1	271	1472	3754	300017
HP:0004322	HP:0004322	Short stature	0	FLNA CL E G H	2316	304120	Oto-palato-digital syndrome, type II	304120	C1844696	OMIM	1	271	1472	3754	300017
HP:0004322	HP:0004322	Short stature	0	FLNB CL E G H	2317	150250	Larsen syndrome, dominant type	150250	C1835564	OMIM	1	122	520	3755	603381
HP:0004322	HP:0004322	Short stature	0	FMR1 CL E G H	2332	261483				ORPHA	1	81	281	3775	309550
HP:0004322	HP:0004322	Short stature	0	FN1 CL E G H	2335	184255	Spondylometaphyseal dysplasia - Sutcliffe type	184255	C0432221	OMIM	1	26	128	3778	135600
HP:0004322	HP:0004322	Short stature	0	FOXE1 CL E G H	2304	95713				ORPHA	1	31	48	3806	602617
HP:0004322	HP:0004322	Short stature	0	FOXH1 CL E G H	8928	280200				ORPHA	1	33	188	3814	603621
HP:0004322	HP:0004322	Short stature	0	FUCA1 CL E G H	2517	230000	Fucosidosis	230000	C0016788	OMIM	1	34	109	4006	612280
HP:0004322	HP:0004322	Short stature	0	G6PC CL E G H	2538	232200	Glycogen storage disease type 1A	232200	C2919796	OMIM	1	118		4056	613742
HP:0004322	HP:0004322	Short stature	0	GAS1 CL E G H	2619	280200				ORPHA	1	6	42	4165	139185
HP:0004322	HP:0004322	Short stature	0	GATA1 CL E G H	2623	190685	Complete trisomy 21 syndrome	190685	C0013080	OMIM	1	15	235	4170	305371
HP:0004322	HP:0004322	Short stature	0	GATA4 CL E G H	2626	251071				ORPHA	1	171	341	4173	600576
HP:0004322	HP:0004322	Short stature	0	GBA CL E G H	2629	231000	Subacute neuronopathic Gaucher's disease	231000	C0268251	OMIM	1	494	206	4177	606463
HP:0004322	HP:0004322	Short stature	0	GDF5 CL E G H	8200	2639				ORPHA	1	59	98	4220	601146
HP:0004322	HP:0004322	Short stature	0	GDF5 CL E G H	8200	63442				ORPHA	1	59	98	4220	601146
HP:0004322	HP:0004322	Short stature	0	GDF5 CL E G H	8200	93388				ORPHA	1	59	98	4220	601146
HP:0004322	HP:0004322	Short stature	0	GDF5 CL E G H	8200	615072	Brachydactyly, type a1, c	615072	C3554446	OMIM	1	59	98	4220	601146
HP:0004322	HP:0004322	Short stature	0	GDF5 CL E G H	8200	113100	Type C brachydactyly	113100	C1862103	OMIM	1	59	98	4220	601146
HP:0004322	HP:0004322	Short stature	0	GH1 CL E G H	2688	612781	Isolated growth hormone deficiency type 1B	612781	C2748571	OMIM	1	109	97	4261	139250
HP:0004322	HP:0004322	Short stature	0	GHR CL E G H	2690	314802				ORPHA	1	121	181	4263	600946
HP:0004322	HP:0004322	Short stature	0	GHR CL E G H	2690	604271	Short stature, idiopathic, autosomal	604271	C1858656	OMIM	1	121	181	4263	600946
HP:0004322	HP:0004322	Short stature	0	GHR CL E G H	2690	615925	Short stature, idiopathic, autosomal	615925	C1858656	OMIM	1	121	181	4263	600946
HP:0004322	HP:0004322	Short stature	0	GHSR CL E G H	2693	314811				ORPHA	1	15	107	4267	601898
HP:0004322	HP:0004322	Short stature	0	GHSR CL E G H	2693	604271	Short stature, idiopathic, autosomal	604271	C1858656	OMIM	1	15	107	4267	601898
HP:0004322	HP:0004322	Short stature	0	GHSR CL E G H	2693	615925	Short stature, idiopathic, autosomal	615925	C1858656	OMIM	1	15	107	4267	601898
HP:0004322	HP:0004322	Short stature	0	GJA1 CL E G H	2697	257850	Oculodentodigital dysplasia, autosomal recessive	257850	C2749477	OMIM	1	109	141	4274	121014
HP:0004322	HP:0004322	Short stature	0	GJA1 CL E G H	2697	317	Sacral hemangiomas multiple congenital abnormalities			ORPHA	1	109	141	4274	121014
HP:0004322	HP:0004322	Short stature	0	GJB3 CL E G H	2707	317	Sacral hemangiomas multiple congenital abnormalities			ORPHA	1	40	122	4285	603324
HP:0004322	HP:0004322	Short stature	0	GJB4 CL E G H	127534	317	Sacral hemangiomas multiple congenital abnormalities			ORPHA	1	21	46	4286	605425
HP:0004322	HP:0004322	Short stature	0	GJB6 CL E G H	10804	189	Elliott Ludman Teebi syndrome			ORPHA	1	34	157	4288	604418
HP:0004322	HP:0004322	Short stature	0	GJB6 CL E G H	10804	129500	Hidrotic ectodermal dysplasia syndrome	129500	C0162361	OMIM	1	34	157	4288	604418
HP:0004322	HP:0004322	Short stature	0	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	37	186	4289	300474
HP:0004322	HP:0004322	Short stature	0	GLA CL E G H	2717	324	Slti Salem syndrome			ORPHA	1	966	728	4296	300644
HP:0004322	HP:0004322	Short stature	0	GLB1 CL E G H	2720	230650	Gangliosidosis GM1 type 3	230650	C0268273	OMIM	1	231	308	4298	611458
HP:0004322	HP:0004322	Short stature	0	GLE1 CL E G H	2733	1486	Congenital herpes simplex			ORPHA	1	18	164	4315	603371
HP:0004322	HP:0004322	Short stature	0	GLI2 CL E G H	2736	280200				ORPHA	1	88	372	4318	165230
HP:0004322	HP:0004322	Short stature	0	GLI2 CL E G H	2736	615849	Culler-Jones syndrome	615849	C4014479	OMIM	1	88	372	4318	165230
HP:0004322	HP:0004322	Short stature	0	GLI3 CL E G H	2737	672	Angiofollicular ganglionic hyperplasia			ORPHA	1	244	537	4319	165240
HP:0004322	HP:0004322	Short stature	0	GLI3 CL E G H	2737	146510	Pallister-Hall syndrome	146510	C0265220	OMIM	1	244	537	4319	165240
HP:0004322	HP:0004322	Short stature	0	GM2A CL E G H	2760	309246				ORPHA	1	12	126	4367	613109
HP:0004322	HP:0004322	Short stature	0	GMPPA CL E G H	29926	869				ORPHA	1	12	74	22923	615495
HP:0004322	HP:0004322	Short stature	0	GNAS CL E G H	2778	79443				ORPHA	1	279	216	4392	139320
HP:0004322	HP:0004322	Short stature	0	GNAS CL E G H	2778	79444				ORPHA	1	279	216	4392	139320
HP:0004322	HP:0004322	Short stature	0	GNAS CL E G H	2778	94089				ORPHA	1	279	216	4392	139320
HP:0004322	HP:0004322	Short stature	0	GNAS CL E G H	2778	103580	Pseudohypoparathyroidism	103580	C0033806	OMIM	1	279	216	4392	139320
HP:0004322	HP:0004322	Short stature	0	GNAS CL E G H	2778	612462	Pseudohypoparathyroidism type 1C	612462	C2932716	OMIM	1	279	216	4392	139320
HP:0004322	HP:0004322	Short stature	0	GNAS CL E G H	2778	612463	Pseudopseudohypoparathyroidism	612463	C0033835	OMIM	1	279	216	4392	139320
HP:0004322	HP:0004322	Short stature	0	GNPTAB CL E G H	79158	576				ORPHA	1	188	462	29670	607840
HP:0004322	HP:0004322	Short stature	0	GNPTAB CL E G H	79158	252600	Pseudo-Hurler polydystrophy	252600	C0033788	OMIM	1	188	462	29670	607840
HP:0004322	HP:0004322	Short stature	0	GNPTG CL E G H	84572	252605	Mucolipidosis III Gamma	252605	C1854896	OMIM	1	49	271	23026	607838
HP:0004322	HP:0004322	Short stature	0	GP1BB CL E G H	2812	567				ORPHA	1	53	404	4440	138720
HP:0004322	HP:0004322	Short stature	0	GPD1 CL E G H	2819	614480	Hypertriglyceridemia, transient infantile	614480	C3280953	OMIM	1	10	28	4455	138420
HP:0004322	HP:0004322	Short stature	0	GPR161 CL E G H	23432	95496				ORPHA	1	1	32	23694	612250
HP:0004322	HP:0004322	Short stature	0	GRHL2 CL E G H	79977	616029	Ectodermal dysplasia/short stature syndrome	616029	C4014987	OMIM	1	13	96	2799	608576
HP:0004322	HP:0004322	Short stature	0	GRIA3 CL E G H	2892	300699	Mental retardation, X-linked, syndromic, wu type	300699	C2678051	OMIM	1	24	243	4573	305915
HP:0004322	HP:0004322	Short stature	0	GRM1 CL E G H	2911	614831	Spinocerebellar ataxia, autosomal recessive 13	614831	C3553816	OMIM	1	20	118	4593	604473
HP:0004322	HP:0004322	Short stature	0	GSC CL E G H	145258	602471	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities	602471	C1865361	OMIM	1	7	36	4612	138890
HP:0004322	HP:0004322	Short stature	0	GTF2E2 CL E G H	2961	616943	Trichothiodystrophy 6, nonphotosensitive	616943	C4310785	OMIM	1	2	69	4651	189964
HP:0004322	HP:0004322	Short stature	0	GTF2H5 CL E G H	404672	616395	Trichothiodystrophy 3, photosensitive	616395	C4017171	OMIM	1	6	33	21157	608780
HP:0004322	HP:0004322	Short stature	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	157	4659	601679
HP:0004322	HP:0004322	Short stature	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	6	206	4661	604318
HP:0004322	HP:0004322	Short stature	0	GUSB CL E G H	2990	253220	Mucopolysaccharidosis type VII	253220	C0085132	OMIM	1	66	157	4696	611499
HP:0004322	HP:0004322	Short stature	0	HBA1 CL E G H	3039	98791				ORPHA	1	217	346	4823	141800
HP:0004322	HP:0004322	Short stature	0	HBA2 CL E G H	3040	98791				ORPHA	1	296	274	4824	141850
HP:0004322	HP:0004322	Short stature	0	HCCS CL E G H	3052	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	14	201	4837	300056
HP:0004322	HP:0004322	Short stature	0	HCFC1 CL E G H	3054	309541	Mental retardation 3, X-linked	309541	C0796208	OMIM	1	18	486	4839	300019
HP:0004322	HP:0004322	Short stature	0	HDAC4 CL E G H	9759	1001	Branchial arch defects			ORPHA	1	16	223	14063	605314
HP:0004322	HP:0004322	Short stature	0	HDAC8 CL E G H	55869	3459				ORPHA	1	56	227	13315	300269
HP:0004322	HP:0004322	Short stature	0	HDAC8 CL E G H	55869	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	56	227	13315	300269
HP:0004322	HP:0004322	Short stature	0	HDAC8 CL E G H	55869	300882	Cornelia de Lange syndrome 5	300882	C3550903	OMIM	1	56	227	13315	300269
HP:0004322	HP:0004322	Short stature	0	HELLS CL E G H	3070	2268				ORPHA	1	6	51	4861	603946
HP:0004322	HP:0004322	Short stature	0	HERC2 CL E G H	8924	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	6	482	4868	605837
HP:0004322	HP:0004322	Short stature	0	HES7 CL E G H	84667	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	6	45	15977	608059
HP:0004322	HP:0004322	Short stature	0	HES7 CL E G H	84667	613686	Spondylocostal dysostosis 4, autosomal recessive	613686	C3150942	OMIM	1	6	45	15977	608059
HP:0004322	HP:0004322	Short stature	0	HESX1 CL E G H	8820	95496				ORPHA	1	27	46	4877	601802
HP:0004322	HP:0004322	Short stature	0	HESX1 CL E G H	8820	226307				ORPHA	1	27	46	4877	601802
HP:0004322	HP:0004322	Short stature	0	HESX1 CL E G H	8820	3157	Lachiewicz Sibley syndrome			ORPHA	1	27	46	4877	601802
HP:0004322	HP:0004322	Short stature	0	HESX1 CL E G H	8820	182230	Septo-optic dysplasia sequence	182230	C0338503	OMIM	1	27	46	4877	601802
HP:0004322	HP:0004322	Short stature	0	HIRA CL E G H	7290	567				ORPHA	1	5	399	4916	600237
HP:0004322	HP:0004322	Short stature	0	HMGA2 CL E G H	8091	94063				ORPHA	1	21	23	5009	600698
HP:0004322	HP:0004322	Short stature	0	HMGB3 CL E G H	3149	300915	Microphthalmia, syndromic 13	300915	C3806742	OMIM	1	1	186	5004	300193
HP:0004322	HP:0004322	Short stature	0	HNF1B CL E G H	6928	261265				ORPHA	1	240	488	11630	189907
HP:0004322	HP:0004322	Short stature	0	HNF4A CL E G H	3172	616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	616026	C4014962	OMIM	1	157	283	5024	600281
HP:0004322	HP:0004322	Short stature	0	HNRNPA1 CL E G H	3178	52430				ORPHA	1	12	53	5031	164017
HP:0004322	HP:0004322	Short stature	0	HNRNPA2B1 CL E G H	3181	52430				ORPHA	1	5	73	5033	600124
HP:0004322	HP:0004322	Short stature	0	HNRNPH2 CL E G H	3188	300986	Mental retardation, X-linked, syndromic, Bain type	300986	C4310814	OMIM	1	4	174	5042	300610
HP:0004322	HP:0004322	Short stature	0	HNRNPU CL E G H	3192	238769				ORPHA	1	68	321	5048	602869
HP:0004322	HP:0004322	Short stature	0	HOXD13 CL E G H	3239	93387				ORPHA	1	42	71	5136	142989
HP:0004322	HP:0004322	Short stature	0	HPRT1 CL E G H	3251	300322	Lesch-Nyhan syndrome	300322	C0023374	OMIM	1	428	272	5157	308000
HP:0004322	HP:0004322	Short stature	0	HRAS CL E G H	3265	3071				ORPHA	1	34	295	5173	190020
HP:0004322	HP:0004322	Short stature	0	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	34	295	5173	190020
HP:0004322	HP:0004322	Short stature	0	HRAS CL E G H	3265	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	1	34	295	5173	190020
HP:0004322	HP:0004322	Short stature	0	HSD11B2 CL E G H	3291	218030	Apparent mineralocorticoid excess	218030	C2936861	OMIM	1	49	62	5209	614232
HP:0004322	HP:0004322	Short stature	0	HSD17B4 CL E G H	3295	233400	Perrault syndrome 1	233400		OMIM	1	101	305	5213	601860
HP:0004322	HP:0004322	Short stature	0	HSPG2 CL E G H	3339	800				ORPHA	1	67	862	5273	142461
HP:0004322	HP:0004322	Short stature	0	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	67	862	5273	142461
HP:0004322	HP:0004322	Short stature	0	HYAL1 CL E G H	3373	67041				ORPHA	1	3	79	5320	607071
HP:0004322	HP:0004322	Short stature	0	HYAL1 CL E G H	3373	601492	Deficiency of hyaluronoglucosaminidase	601492	C1291490	OMIM	1	3	79	5320	607071
HP:0004322	HP:0004322	Short stature	0	IARS2 CL E G H	55699	436174				ORPHA	1	9	114	29685	612801
HP:0004322	HP:0004322	Short stature	0	IARS2 CL E G H	55699	616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	616007	C4014942	OMIM	1	9	114	29685	612801
HP:0004322	HP:0004322	Short stature	0	IDH1 CL E G H	3417	163634				ORPHA	1	5	53	5382	147700
HP:0004322	HP:0004322	Short stature	0	IDH2 CL E G H	3418	163634				ORPHA	1	7	102	5383	147650
HP:0004322	HP:0004322	Short stature	0	IDUA CL E G H	3425	93473				ORPHA	1	291	622	5391	252800
HP:0004322	HP:0004322	Short stature	0	IDUA CL E G H	3425	93476				ORPHA	1	291	622	5391	252800
HP:0004322	HP:0004322	Short stature	0	IDUA CL E G H	3425	607014	Dysostosis multiplex	607014	C0086795	OMIM	1	291	622	5391	252800
HP:0004322	HP:0004322	Short stature	0	IDUA CL E G H	3425	607015	Mucopolysaccharidosis, MPS-I-H/S	607015	C0086431	OMIM	1	291	622	5391	252800
HP:0004322	HP:0004322	Short stature	0	IFIH1 CL E G H	64135	51				ORPHA	1	28	286	18873	606951
HP:0004322	HP:0004322	Short stature	0	IFIH1 CL E G H	64135	182250	Singleton-Merten syndrome 1	182250	C4225427	OMIM	1	28	286	18873	606951
HP:0004322	HP:0004322	Short stature	0	IFITM5 CL E G H	387733	610967	Osteogenesis imperfecta type 5	610967	C1970414	OMIM	1	3	63	16644	614757
HP:0004322	HP:0004322	Short stature	0	IFT140 CL E G H	9742	266920	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	266920	C1849437	OMIM	1	72	530	29077	614620
HP:0004322	HP:0004322	Short stature	0	IFT172 CL E G H	26160	110				ORPHA	1	27	269	30391	607386
HP:0004322	HP:0004322	Short stature	0	IFT172 CL E G H	26160	615630	Short-rib thoracic dysplasia 10 with or without polydactyly	615630	C3810175	OMIM	1	27	269	30391	607386
HP:0004322	HP:0004322	Short stature	0	IFT27 CL E G H	11020	110				ORPHA	1	4	52	18626	615870
HP:0004322	HP:0004322	Short stature	0	IFT43 CL E G H	112752	614099	Cranioectodermal dysplasia 3	614099	C3279807	OMIM	1	7	64	29669	614068
HP:0004322	HP:0004322	Short stature	0	IFT52 CL E G H	51098	617102	Short-rib thoracic dysplasia 16 with or without polydactyly	617102	C4310718	OMIM	1	5	34	15901	617094
HP:0004322	HP:0004322	Short stature	0	IGBP1 CL E G H	3476	52055				ORPHA	1	2	142	5461	300139
HP:0004322	HP:0004322	Short stature	0	IGBP1 CL E G H	3476	300472	Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia	300472	C1845446	OMIM	1	2	142	5461	300139
HP:0004322	HP:0004322	Short stature	0	IGF1 CL E G H	3479	73272				ORPHA	1	13	167	5464	147440
HP:0004322	HP:0004322	Short stature	0	IGF1 CL E G H	3479	608747	Insulin-like growth factor I deficiency	608747	C1837475	OMIM	1	13	167	5464	147440
HP:0004322	HP:0004322	Short stature	0	IGF1R CL E G H	3480	73273				ORPHA	1	79	622	5465	147370
HP:0004322	HP:0004322	Short stature	0	IGF1R CL E G H	3480	270450	Insulin-like growth factor 1 resistance to	270450	C1849157	OMIM	1	79	622	5465	147370
HP:0004322	HP:0004322	Short stature	0	IGF2 CL E G H	3481	616489	Growth restriction, severe, with distinctive facies	616489	C4225307	OMIM	1	11	67	5466	147470
HP:0004322	HP:0004322	Short stature	0	IHH CL E G H	3549	63446				ORPHA	1	33	115	5956	600726
HP:0004322	HP:0004322	Short stature	0	IHH CL E G H	3549	93388				ORPHA	1	33	115	5956	600726
HP:0004322	HP:0004322	Short stature	0	IHH CL E G H	3549	112500	Type A1 brachydactyly	112500	C1862151	OMIM	1	33	115	5956	600726
HP:0004322	HP:0004322	Short stature	0	IKBKG CL E G H	8517	464	Achromatopsia incomplete X-linked		CN036572	ORPHA	1	151	295	5961	300248
HP:0004322	HP:0004322	Short stature	0	IKBKG CL E G H	8517	308300	Incontinentia pigmenti syndrome	308300	C0021171	OMIM	1	151	295	5961	300248
HP:0004322	HP:0004322	Short stature	0	IMPAD1 CL E G H	54928	614078	Chondrodysplasia with joint dislocations, GPAPP type	614078	C3279757	OMIM	1	5		26019	614010
HP:0004322	HP:0004322	Short stature	0	INPP5K CL E G H	51763	617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	617404	C4479410	OMIM	1	10	136	33882	607875
HP:0004322	HP:0004322	Short stature	0	INSR CL E G H	3643	769				ORPHA	1	196	407	6091	147670
HP:0004322	HP:0004322	Short stature	0	INSR CL E G H	3643	508	Acroosteolysis dominant type			ORPHA	1	196	407	6091	147670
HP:0004322	HP:0004322	Short stature	0	INSR CL E G H	3643	262190	Pineal hyperplasia AND diabetes mellitus syndrome	262190	C0271695	OMIM	1	196	407	6091	147670
HP:0004322	HP:0004322	Short stature	0	INVS CL E G H	27130	3156				ORPHA	1	35	323	17870	243305
HP:0004322	HP:0004322	Short stature	0	IPW CL E G H	3653	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1		311	6109	601491
HP:0004322	HP:0004322	Short stature	0	IQCB1 CL E G H	9657	3156				ORPHA	1	43	155	28949	609237
HP:0004322	HP:0004322	Short stature	0	IQSEC2 CL E G H	23096	819				ORPHA	1	57	539	29059	300522
HP:0004322	HP:0004322	Short stature	0	ITGB6 CL E G H	3694	2850				ORPHA	1	7	60	6161	147558
HP:0004322	HP:0004322	Short stature	0	IYD CL E G H	389434	95716				ORPHA	1	5	46	21071	612025
HP:0004322	HP:0004322	Short stature	0	JMJD1C CL E G H	221037	567				ORPHA	1	29	509	12313	604503
HP:0004322	HP:0004322	Short stature	0	KAT6A CL E G H	7994	457193				ORPHA	1	29	219	13013	601408
HP:0004322	HP:0004322	Short stature	0	KAT6B CL E G H	23522	648				ORPHA	1	76	228	17582	605880
HP:0004322	HP:0004322	Short stature	0	KCNJ1 CL E G H	3758	241200	Bartter syndrome, type 2, antenatal	241200	C1855849	OMIM	1	70	176	6255	600359
HP:0004322	HP:0004322	Short stature	0	KDM5C CL E G H	8242	85279				ORPHA	1	56	327	11114	314690
HP:0004322	HP:0004322	Short stature	0	KDM6A CL E G H	7403	2322				ORPHA	1	81	311	12637	300128
HP:0004322	HP:0004322	Short stature	0	KDM6A CL E G H	7403	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	81	311	12637	300128
HP:0004322	HP:0004322	Short stature	0	KDSR CL E G H	2531	317	Sacral hemangiomas multiple congenital abnormalities			ORPHA	1	10	89	4021	136440
HP:0004322	HP:0004322	Short stature	0	KIAA0556 CL E G H	23247	616784	Joubert syndrome 26	616784	C4084843	OMIM	1	2		29068	616650
HP:0004322	HP:0004322	Short stature	0	KIAA0753 CL E G H	9851	2754				ORPHA	1	7	65	29110	617112
HP:0004322	HP:0004322	Short stature	0	KIF14 CL E G H	9928	2512				ORPHA	1	16	77	19181	611279
HP:0004322	HP:0004322	Short stature	0	KIF1BP CL E G H	26128	66629				ORPHA	1	10		23419	609367
HP:0004322	HP:0004322	Short stature	0	KIF1C CL E G H	10749	397946				ORPHA	1	17	197	6317	603060
HP:0004322	HP:0004322	Short stature	0	KIF22 CL E G H	3835	93360				ORPHA	1	4	272	6391	603213
HP:0004322	HP:0004322	Short stature	0	KIF22 CL E G H	3835	603546	Spondyloepimetaphyseal dysplasia with multiple dislocations	603546	C1863732	OMIM	1	4	272	6391	603213
HP:0004322	HP:0004322	Short stature	0	KIF7 CL E G H	374654	2754				ORPHA	1	45	386	30497	611254
HP:0004322	HP:0004322	Short stature	0	KISS1R CL E G H	84634	176400	Central precocious puberty	176400	C0342543	OMIM	1	39	78	4510	604161
HP:0004322	HP:0004322	Short stature	0	KLF1 CL E G H	10661	613673	Congenital dyserythropoietic anemia, type IV	613673	C3150926	OMIM	1	105	76	6345	600599
HP:0004322	HP:0004322	Short stature	0	KMT2A CL E G H	4297	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	127	379	7132	159555
HP:0004322	HP:0004322	Short stature	0	KMT2A CL E G H	4297	605130	Wiedemann-Steiner syndrome	605130	C1854630	OMIM	1	127	379	7132	159555
HP:0004322	HP:0004322	Short stature	0	KMT2D CL E G H	8085	2322				ORPHA	1	712	1350	7133	602113
HP:0004322	HP:0004322	Short stature	0	KMT2D CL E G H	8085	147920	Kabuki syndrome 1	147920	CN030661	OMIM	1	712	1350	7133	602113
HP:0004322	HP:0004322	Short stature	0	KNL1 CL E G H	57082	2512				ORPHA	1	6	216	24054	609173
HP:0004322	HP:0004322	Short stature	0	KRAS CL E G H	3845	648				ORPHA	1	45	274	6407	190070
HP:0004322	HP:0004322	Short stature	0	KRAS CL E G H	3845	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	45	274	6407	190070
HP:0004322	HP:0004322	Short stature	0	KRAS CL E G H	3845	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	1	45	274	6407	190070
HP:0004322	HP:0004322	Short stature	0	KRAS CL E G H	3845	609942	Noonan syndrome 3	609942	C1860991	OMIM	1	45	274	6407	190070
HP:0004322	HP:0004322	Short stature	0	L1CAM CL E G H	3897	2466				ORPHA	1	293	519	6470	308840
HP:0004322	HP:0004322	Short stature	0	L1CAM CL E G H	3897	303350	Spastic paraplegia 1	303350	C0795953	OMIM	1	293	519	6470	308840
HP:0004322	HP:0004322	Short stature	0	LAGE3 CL E G H	8270	2065				ORPHA	1	3	219	26058	300060
HP:0004322	HP:0004322	Short stature	0	LAMTOR2 CL E G H	28956	90023				ORPHA	1	1	25	29796	610389
HP:0004322	HP:0004322	Short stature	0	LAMTOR2 CL E G H	28956	610798	Immunodeficiency due to defect in mapbp-interacting protein	610798	C1835829	OMIM	1	1	25	29796	610389
HP:0004322	HP:0004322	Short stature	0	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	28	406	6511	603590
HP:0004322	HP:0004322	Short stature	0	LAS1L CL E G H	81887	3459				ORPHA	1	4	172	25726	300964
HP:0004322	HP:0004322	Short stature	0	LAS1L CL E G H	81887	309585	Wilson-Turner X-linked mental retardation syndrome	309585	C1839736	OMIM	1	4	172	25726	300964
HP:0004322	HP:0004322	Short stature	0	LEMD3 CL E G H	23592	94063				ORPHA	1	34	138	28887	607844
HP:0004322	HP:0004322	Short stature	0	LEMD3 CL E G H	23592	166119				ORPHA	1	34	138	28887	607844
HP:0004322	HP:0004322	Short stature	0	LEMD3 CL E G H	23592	1306	Choreoacanthocytosis amyotrophic			ORPHA	1	34	138	28887	607844
HP:0004322	HP:0004322	Short stature	0	LETM1 CL E G H	3954	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	4	175	6556	604407
HP:0004322	HP:0004322	Short stature	0	LFNG CL E G H	3955	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	7	109	6560	602576
HP:0004322	HP:0004322	Short stature	0	LHX1 CL E G H	3975	261265				ORPHA	1	7	115	6593	601999
HP:0004322	HP:0004322	Short stature	0	LHX3 CL E G H	8022	226307				ORPHA	1	18	175	6595	600577
HP:0004322	HP:0004322	Short stature	0	LHX3 CL E G H	8022	231720				ORPHA	1	18	175	6595	600577
HP:0004322	HP:0004322	Short stature	0	LHX3 CL E G H	8022	221750	Pituitary hormone deficiency, combined 3	221750	C3489787	OMIM	1	18	175	6595	600577
HP:0004322	HP:0004322	Short stature	0	LHX4 CL E G H	89884	95496				ORPHA	1	23	116	21734	602146
HP:0004322	HP:0004322	Short stature	0	LHX4 CL E G H	89884	226307				ORPHA	1	23	116	21734	602146
HP:0004322	HP:0004322	Short stature	0	LIFR CL E G H	3977	3206				ORPHA	1	32	346	6597	151443
HP:0004322	HP:0004322	Short stature	0	LIFR CL E G H	3977	601559	Stuve-Wiedemann syndrome	601559	C0796176	OMIM	1	32	346	6597	151443
HP:0004322	HP:0004322	Short stature	0	LIG4 CL E G H	3981	235				ORPHA	1	40	317	6601	601837
HP:0004322	HP:0004322	Short stature	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	7	193	6613	601329
HP:0004322	HP:0004322	Short stature	0	LMNA CL E G H	4000	79474				ORPHA	1	574	1152	6636	150330
HP:0004322	HP:0004322	Short stature	0	LMNA CL E G H	4000	90153				ORPHA	1	574	1152	6636	150330
HP:0004322	HP:0004322	Short stature	0	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	574	1152	6636	150330
HP:0004322	HP:0004322	Short stature	0	LMX1B CL E G H	4010	2613				ORPHA	1	195	304	6654	602575
HP:0004322	HP:0004322	Short stature	0	LMX1B CL E G H	4010	161200	Nail-patella syndrome	161200	C0027341	OMIM	1	195	304	6654	602575
HP:0004322	HP:0004322	Short stature	0	LONP1 CL E G H	9361	1458				ORPHA	1	19	131	9479	605490
HP:0004322	HP:0004322	Short stature	0	LRP5 CL E G H	4041	259770	Osteoporosis with pseudoglioma	259770	C0432252	OMIM	1	221	411	6697	603506
HP:0004322	HP:0004322	Short stature	0	LTBP2 CL E G H	4053	3449	Mehes syndrome			ORPHA	1	29	299	6715	602091
HP:0004322	HP:0004322	Short stature	0	LTBP2 CL E G H	4053	614819	Weill-Marchesani syndrome 3	614819	C3553785	OMIM	1	29	299	6715	602091
HP:0004322	HP:0004322	Short stature	0	LTBP3 CL E G H	4054	601216	Verloes Bourguignon syndrome	601216	C1832594	OMIM	1	13	92	6716	602090
HP:0004322	HP:0004322	Short stature	0	LZTFL1 CL E G H	54585	110				ORPHA	1	3	40	6741	606568
HP:0004322	HP:0004322	Short stature	0	LZTR1 CL E G H	8216	648				ORPHA	1	86	699	6742	600574
HP:0004322	HP:0004322	Short stature	0	LZTR1 CL E G H	8216	616564	Noonan syndrome 10	616564	C4225280	OMIM	1	86	699	6742	600574
HP:0004322	HP:0004322	Short stature	0	MAD2L2 CL E G H	10459	84				ORPHA	1	1	54	6764	604094
HP:0004322	HP:0004322	Short stature	0	MAD2L2 CL E G H	10459	617243	Fanconi anemia, complementation group V	617243	C4310652	OMIM	1	1	54	6764	604094
HP:0004322	HP:0004322	Short stature	0	MAF CL E G H	4094	601088	Ayme-gripp syndrome	601088	C1832812	OMIM	1	22	172	6776	177075
HP:0004322	HP:0004322	Short stature	0	MAGEL2 CL E G H	54551	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	20	453	6814	605283
HP:0004322	HP:0004322	Short stature	0	MAGEL2 CL E G H	54551	615547	Schaaf-yang syndrome	615547	C3809877	OMIM	1	20	453	6814	605283
HP:0004322	HP:0004322	Short stature	0	MAP2K1 CL E G H	5604	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	23	213	6840	176872
HP:0004322	HP:0004322	Short stature	0	MAP2K1 CL E G H	5604	163950	Noonan syndrome 1	163950	C0041409	OMIM	1	23	213	6840	176872
HP:0004322	HP:0004322	Short stature	0	MAP2K2 CL E G H	5605	638				ORPHA	1	35	338	6842	601263
HP:0004322	HP:0004322	Short stature	0	MAP2K2 CL E G H	5605	615280	Cardiofaciocutaneous syndrome 4	615280	C3809007	OMIM	1	35	338	6842	601263
HP:0004322	HP:0004322	Short stature	0	MAP2K2 CL E G H	5605	1340	Chromosome 4, monosomy 4q		C0265404	ORPHA	1	35	338	6842	601263
HP:0004322	HP:0004322	Short stature	0	MAP3K7 CL E G H	6885	157800	Forney Robinson Pascoe syndrome	157800	C2931461	OMIM	1	13	64	6859	602614
HP:0004322	HP:0004322	Short stature	0	MAPK1 CL E G H	5594	261330				ORPHA	1	3	112	6871	176948
HP:0004322	HP:0004322	Short stature	0	MARS2 CL E G H	92935	616430	Combined oxidative phosphorylation deficiency 25	616430	C4225329	OMIM	1	6	74	25133	609728
HP:0004322	HP:0004322	Short stature	0	MBD5 CL E G H	55777	228402				ORPHA	1	91	664	20444	611472
HP:0004322	HP:0004322	Short stature	0	MBD5 CL E G H	55777	156200	Mental retardation, autosomal dominant 1	156200	C1969562	OMIM	1	91	664	20444	611472
HP:0004322	HP:0004322	Short stature	0	MBTPS2 CL E G H	51360	308205	IFAP syndrome with or without BRESHECK syndrome	308205	C1839988	OMIM	1	26	207	15455	300294
HP:0004322	HP:0004322	Short stature	0	MCM9 CL E G H	254394	616185	Ovarian dysgenesis 4	616185	C4015409	OMIM	1	10	46	21484	610098
HP:0004322	HP:0004322	Short stature	0	MCPH1 CL E G H	79648	2512				ORPHA	1	35	403	6954	607117
HP:0004322	HP:0004322	Short stature	0	MCTP2 CL E G H	55784	1596				ORPHA	1	9	101	25636	616297
HP:0004322	HP:0004322	Short stature	0	MECP2 CL E G H	4204	778				ORPHA	1	1050	1442	6990	300005
HP:0004322	HP:0004322	Short stature	0	MECP2 CL E G H	4204	1762				ORPHA	1	1050	1442	6990	300005
HP:0004322	HP:0004322	Short stature	0	MECP2 CL E G H	4204	312750	Rett syndrome	312750	C0035372	OMIM	1	1050	1442	6990	300005
HP:0004322	HP:0004322	Short stature	0	MED12 CL E G H	9968	305450	FG syndrome	305450	C0220769	OMIM	1	34	650	11957	300188
HP:0004322	HP:0004322	Short stature	0	MEIS2 CL E G H	4212	261190				ORPHA	1	23	57	7001	601740
HP:0004322	HP:0004322	Short stature	0	MEIS2 CL E G H	4212	600987	Cleft palate, cardiac defects, and mental retardation	600987	C1832950	OMIM	1	23	57	7001	601740
HP:0004322	HP:0004322	Short stature	0	MESP2 CL E G H	145873	2311	Autosomal recessive spondylocostal dysostosis		CN043670	ORPHA	1	6	154	29659	605195
HP:0004322	HP:0004322	Short stature	0	MFSD2A CL E G H	84879	2512				ORPHA	1	6	33	25897	614397
HP:0004322	HP:0004322	Short stature	0	MGAT2 CL E G H	4247	212066	Carbohydrate-deficient glycoprotein syndrome type II	212066	C2931008	OMIM	1	5	107	7045	602616
HP:0004322	HP:0004322	Short stature	0	MIR17HG CL E G H	407975	614326	Feingold syndrome 2	614326	C3280489	OMIM	1	9	72	23564	609415
HP:0004322	HP:0004322	Short stature	0	MKKS CL E G H	8195	110				ORPHA	1	60	194	7108	604896
HP:0004322	HP:0004322	Short stature	0	MKRN3 CL E G H	7681	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	32	331	7114	603856
HP:0004322	HP:0004322	Short stature	0	MKRN3-AS1 CL E G H	10108	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1			12910	603857
HP:0004322	HP:0004322	Short stature	0	MKS1 CL E G H	54903	110				ORPHA	1	52	334	7121	609883
HP:0004322	HP:0004322	Short stature	0	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	1	6	197	12744	605678
HP:0004322	HP:0004322	Short stature	0	MLYCD CL E G H	23417	248360	Deficiency of malonyl-CoA decarboxylase	248360	C0342793	OMIM	1	39	237	7150	606761
HP:0004322	HP:0004322	Short stature	0	MMP13 CL E G H	4322	1040				ORPHA	1	10	95	7159	600108
HP:0004322	HP:0004322	Short stature	0	MMP13 CL E G H	4322	93356				ORPHA	1	10	95	7159	600108
HP:0004322	HP:0004322	Short stature	0	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	27	148	7166	120360
HP:0004322	HP:0004322	Short stature	0	MMP9 CL E G H	4318	1040				ORPHA	1	17	81	7176	120361
HP:0004322	HP:0004322	Short stature	0	MPL CL E G H	4352	3319				ORPHA	1	57	187	7217	159530
HP:0004322	HP:0004322	Short stature	0	MPV17 CL E G H	4358	256810	Navajo neurohepatopathy	256810	C1850406	OMIM	1	50	124	7224	137960
HP:0004322	HP:0004322	Short stature	0	MSMO1 CL E G H	6307	616834	Microcephaly, congenital cataract, and psoriasiform dermatitis	616834	C4225189	OMIM	1	4	48	10545	607545
HP:0004322	HP:0004322	Short stature	0	MSTO1 CL E G H	55154	502423				ORPHA	1	8	35	29678	617619
HP:0004322	HP:0004322	Short stature	0	MT-ATP6 CL E G H	4508	644				ORPHA	1			7414	516060
HP:0004322	HP:0004322	Short stature	0	MT-CO1 CL E G H	4512	550				ORPHA	1			7419	516030
HP:0004322	HP:0004322	Short stature	0	MT-CO2 CL E G H	4513	550				ORPHA	1			7421	516040
HP:0004322	HP:0004322	Short stature	0	MT-CO3 CL E G H	4514	550				ORPHA	1			7422	516050
HP:0004322	HP:0004322	Short stature	0	MT-ND1 CL E G H	4535	550				ORPHA	1			7455	516000
HP:0004322	HP:0004322	Short stature	0	MT-ND4 CL E G H	4538	550				ORPHA	1			7459	516003
HP:0004322	HP:0004322	Short stature	0	MT-ND5 CL E G H	4540	550				ORPHA	1			7461	516005
HP:0004322	HP:0004322	Short stature	0	MT-ND5 CL E G H	4540	551				ORPHA	1			7461	516005
HP:0004322	HP:0004322	Short stature	0	MT-ND6 CL E G H	4541	550				ORPHA	1			7462	516006
HP:0004322	HP:0004322	Short stature	0	MT-RNR1 CL E G H	4549	551				ORPHA	1			7470	180450
HP:0004322	HP:0004322	Short stature	0	MT-TF CL E G H	4558	550				ORPHA	1			7481	590070
HP:0004322	HP:0004322	Short stature	0	MT-TF CL E G H	4558	551				ORPHA	1			7481	590070
HP:0004322	HP:0004322	Short stature	0	MT-TH CL E G H	4564	550				ORPHA	1			7487	590040
HP:0004322	HP:0004322	Short stature	0	MT-TH CL E G H	4564	551				ORPHA	1			7487	590040
HP:0004322	HP:0004322	Short stature	0	MT-TK CL E G H	4566	551				ORPHA	1			7489	590060
HP:0004322	HP:0004322	Short stature	0	MT-TL1 CL E G H	4567	550				ORPHA	1			7490	590050
HP:0004322	HP:0004322	Short stature	0	MT-TL1 CL E G H	4567	551				ORPHA	1			7490	590050
HP:0004322	HP:0004322	Short stature	0	MT-TP CL E G H	4571	551				ORPHA	1			7494	590075
HP:0004322	HP:0004322	Short stature	0	MT-TQ CL E G H	4572	550				ORPHA	1			7495	590030
HP:0004322	HP:0004322	Short stature	0	MT-TQ CL E G H	4572	551				ORPHA	1			7495	590030
HP:0004322	HP:0004322	Short stature	0	MT-TS1 CL E G H	4574	550				ORPHA	1			7497	590080
HP:0004322	HP:0004322	Short stature	0	MT-TS1 CL E G H	4574	551				ORPHA	1			7497	590080
HP:0004322	HP:0004322	Short stature	0	MT-TS2 CL E G H	4575	550				ORPHA	1			7498	590085
HP:0004322	HP:0004322	Short stature	0	MT-TS2 CL E G H	4575	551				ORPHA	1			7498	590085
HP:0004322	HP:0004322	Short stature	0	MT-TW CL E G H	4578	550				ORPHA	1			7501	590095
HP:0004322	HP:0004322	Short stature	0	MVK CL E G H	4598	29				ORPHA	1	183	277	7530	251170
HP:0004322	HP:0004322	Short stature	0	MVK CL E G H	4598	610377	Mevalonic aciduria	610377	C1959626	OMIM	1	183	277	7530	251170
HP:0004322	HP:0004322	Short stature	0	MYH3 CL E G H	4621	1147				ORPHA	1	45	315	7573	160720
HP:0004322	HP:0004322	Short stature	0	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	45	315	7573	160720
HP:0004322	HP:0004322	Short stature	0	MYH3 CL E G H	4621	178110	Distal arthrogryposis type 8	178110	C1867440	OMIM	1	45	315	7573	160720
HP:0004322	HP:0004322	Short stature	0	MYH3 CL E G H	4621	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	45	315	7573	160720
HP:0004322	HP:0004322	Short stature	0	MYH7 CL E G H	4625	324604				ORPHA	1	1002	2440	7577	160760
HP:0004322	HP:0004322	Short stature	0	MYH8 CL E G H	4626	3377	Cystinosis		CN035091	ORPHA	1	3	225	7578	160741
HP:0004322	HP:0004322	Short stature	0	MYH8 CL E G H	4626	158300	Hecht syndrome	158300	C0265226	OMIM	1	3	225	7578	160741
HP:0004322	HP:0004322	Short stature	0	MYMK CL E G H	389827	1358				ORPHA	1	7	57	33778	615345
HP:0004322	HP:0004322	Short stature	0	NAA10 CL E G H	8260	568	Aggressive fibromatosis			ORPHA	1	10	296	18704	300013
HP:0004322	HP:0004322	Short stature	0	NAA10 CL E G H	8260	300855	N-terminal acetyltransferase deficiency	300855	C3275447	OMIM	1	10	296	18704	300013
HP:0004322	HP:0004322	Short stature	0	NALCN CL E G H	259232	1147				ORPHA	1	65	247	19082	611549
HP:0004322	HP:0004322	Short stature	0	NALCN CL E G H	259232	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	1	65	247	19082	611549
HP:0004322	HP:0004322	Short stature	0	NAT8L CL E G H	339983	614063	N-acetylaspartate deficiency	614063	C3279716	OMIM	1	1	139	26742	610647
HP:0004322	HP:0004322	Short stature	0	NBAS CL E G H	51594	614800	Short stature, optic nerve atrophy, and Pelger-Huet anomaly	614800	C3541319	OMIM	1	44	156	15625	608025
HP:0004322	HP:0004322	Short stature	0	NBN CL E G H	4683	647				ORPHA	1	148	2045	7652	602667
HP:0004322	HP:0004322	Short stature	0	NBN CL E G H	4683	251260	Microcephaly, normal intelligence and immunodeficiency	251260	C0398791	OMIM	1	148	2045	7652	602667
HP:0004322	HP:0004322	Short stature	0	NCAPD3 CL E G H	23310	2512				ORPHA	1	5	121	28952	609276
HP:0004322	HP:0004322	Short stature	0	NDE1 CL E G H	54820	605013	Microhydranencephaly	605013	C1857977	OMIM	1	20	1161	17619	609449
HP:0004322	HP:0004322	Short stature	0	NDN CL E G H	4692	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1	2	314	7675	602117
HP:0004322	HP:0004322	Short stature	0	NDUFB11 CL E G H	54539	309801	Linear skin defects with multiple congenital anomalies 1	309801	C0796070	OMIM	1	6	163	20372	300403
HP:0004322	HP:0004322	Short stature	0	NEK1 CL E G H	4750	2751	Hunter Carpenter Macdonald syndrome			ORPHA	1	30	311	7744	604588
HP:0004322	HP:0004322	Short stature	0	NEU1 CL E G H	4758	812				ORPHA	1	64	102	7758	608272
HP:0004322	HP:0004322	Short stature	0	NEU1 CL E G H	4758	256550	Sialidosis, type II	256550	C0268226	OMIM	1	64	102	7758	608272
HP:0004322	HP:0004322	Short stature	0	NF1 CL E G H	4763	638				ORPHA	1	3011	6491	7765	613113
HP:0004322	HP:0004322	Short stature	0	NF1 CL E G H	4763	139474				ORPHA	1	3011	6491	7765	613113
HP:0004322	HP:0004322	Short stature	0	NF1 CL E G H	4763	193520	Café-au-lait macules with pulmonary stenosis	193520	C0553586	OMIM	1	3011	6491	7765	613113
HP:0004322	HP:0004322	Short stature	0	NHP2 CL E G H	55651	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	3	92	14377	606470
HP:0004322	HP:0004322	Short stature	0	NIPBL CL E G H	25836	199	Cardiac hydatid cysts with intracavitary expansion			ORPHA	1	437	809	28862	608667
HP:0004322	HP:0004322	Short stature	0	NIPBL CL E G H	25836	122470	Cornelia de Lange syndrome 1	122470	CN029798	OMIM	1	437	809	28862	608667
HP:0004322	HP:0004322	Short stature	0	NKX2-1 CL E G H	7080	95713				ORPHA	1	143	136	11825	600635
HP:0004322	HP:0004322	Short stature	0	NKX2-5 CL E G H	1482	95712				ORPHA	1	112	215	2488	600584
HP:0004322	HP:0004322	Short stature	0	NKX2-5 CL E G H	1482	95713				ORPHA	1	112	215	2488	600584
HP:0004322	HP:0004322	Short stature	0	NLRC4 CL E G H	58484	616050	Autoinflammation with infantile enterocolitis	616050	C4015067	OMIM	1	9	214	16412	606831
HP:0004322	HP:0004322	Short stature	0	NODAL CL E G H	4838	280200				ORPHA	1	25	101	7865	601265
HP:0004322	HP:0004322	Short stature	0	NOG CL E G H	9241	1412	Coarse face hypotonia constipation			ORPHA	1	64	47	7866	602991
HP:0004322	HP:0004322	Short stature	0	NOG CL E G H	9241	186570	Tarsal carpal coalition syndrome	186570	C1861305	OMIM	1	64	47	7866	602991
HP:0004322	HP:0004322	Short stature	0	NOP10 CL E G H	55505	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	1	60	14378	606471
HP:0004322	HP:0004322	Short stature	0	NOTCH2 CL E G H	4853	955				ORPHA	1	81	394	7882	600275
HP:0004322	HP:0004322	Short stature	0	NOTCH2 CL E G H	4853	102500	Hajdu-Cheney syndrome	102500	C0917715	OMIM	1	81	394	7882	600275
HP:0004322	HP:0004322	Short stature	0	NOTCH3 CL E G H	4854	130720	Lehman syndrome	130720	C1851710	OMIM	1	379	591	7883	600276
HP:0004322	HP:0004322	Short stature	0	NPAP1 CL E G H	23742	176270	Prader-Willi syndrome	176270	C0032897	OMIM	1		343	1190	610922
HP:0004322	HP:0004322	Short stature	0	NPHP1 CL E G H	4867	110				ORPHA	1	79	403	7905	607100
HP:0004322	HP:0004322	Short stature	0	NPHP1 CL E G H	4867	3156				ORPHA	1	79	403	7905	607100
HP:0004322	HP:0004322	Short stature	0	NPHP3 CL E G H	27031	3156				ORPHA	1	76	441	7907	608002
HP:0004322	HP:0004322	Short stature	0	NPHP4 CL E G H	261734	3156				ORPHA	1	118	659	19104	607215
HP:0004322	HP:0004322	Short stature	0	NRAS CL E G H	4893	648				ORPHA	1	14	181	7989	164790
HP:0004322	HP:0004322	Short stature	0	NRAS CL E G H	4893	163200	Epidermal nevus syndrome	163200	C0265318	OMIM	1	14	181	7989	164790
HP:0004322	HP:0004322	Short stature	0	NRAS CL E G H	4893	613224	Noonan syndrome 6	613224	C2750732	OMIM	1	14	181	7989	164790
HP:0004322	HP:0004322	Short stature	0	NSD1 CL E G H	64324	228415				ORPHA	1	525	896	14234	606681
HP:0004322	HP:0004322	Short stature	0	NSD2 CL E G H	7468	194190	4p partial monosomy syndrome	194190	C1956097	OMIM	1	14	220	12766	602952
HP:0004322	HP:0004322	Short stature	0	NSUN2 CL E G H	54888	235				ORPHA	1	7	260	25994	610916
HP:0004322	HP:0004322	Short stature	0	NSUN2 CL E G H	54888	611091	Mental retardation, autosomal recessive 5	611091	C1970199	OMIM	1	7	260	25994	610916
HP:0004322	HP:0004322	Short stature	0	NUP107 CL E G H	57122	2065				ORPHA	1	12	40	29914	607617
HP:0004322	HP:0004322	Short stature	0	OBSL1 CL E G H	23363	2616				ORPHA	1	35	331	29092	610991
HP:0004322	HP:0004322	Short stature	0	OBSL1 CL E G H	23363	612921	Three M syndrome 2	612921	C2752041	OMIM	1	35	331	29092	610991
HP:0004322	HP:0004322	Short stature	0	OCRL CL E G H	4952	534	Acute myeloblastic leukemia without maturation			ORPHA	1	264	342	8108	300535
HP:0004322	HP:0004322	Short stature	0	OCRL CL E G H	4952	300555	Dent disease 2	300555	C1845167	OMIM	1	264	342	8108	300535
HP:0004322	HP:0004322	Short stature	0	OCRL CL E G H	4952	309000	Lowe syndrome	309000	C0028860	OMIM	1	264	342	8108	300535
HP:0004322	HP:0004322	Short stature	0	OFD1 CL E G H	8481	2754				ORPHA	1	162	510	2567	300170
HP:0004322	HP:0004322	Short stature	0	OFD1 CL E G H	8481	311200	Oral-facial-digital syndrome	311200	C1510460	OMIM	1	162	510	2567	300170
HP:0004322	HP:0004322	Short stature	0	OGDH CL E G H	4967	31	Serpiginous choroiditis			ORPHA	1	1	67	8124	613022
HP:0004322	HP:0004322	Short stature	0	ORAI1 CL E G H	84876	3204				ORPHA	1	17	101	25896	610277
HP:0004322	HP:0004322	Short stature	0	OSGEP CL E G H	55644	2065				ORPHA	1	17	46	18028	610107
HP:0004322	HP:0004322	Short stature	0	OTUD6B CL E G H	51633	505237				ORPHA	1	6	47	24281	612021
HP:0004322	HP:0004322	Short stature	0	OTUD6B CL E G H	51633	617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	617452	C4479520	OMIM	1	6	47	24281	612021
HP:0004322	HP:0004322	Short stature	0	OTX2 CL E G H	5015	3157	Lachiewicz Sibley syndrome			ORPHA	1	78	98	8522	600037
HP:0004322	HP:0004322	Short stature	0	OTX2 CL E G H	5015	613986	Pituitary hormone deficiency, combined 6	613986	C3151440	OMIM	1	78	98	8522	600037
HP:0004322	HP:0004322	Short stature	0	P4HB CL E G H	5034	112240	Cole-Carpenter syndrome 1	112240	C4317154	OMIM	1	11	47	8548	176790
HP:0004322	HP:0004322	Short stature	0	P4HB CL E G H	5034	2050	Ectodermal dysplasia Margarita type			ORPHA	1	11	47	8548	176790
HP:0004322	HP:0004322	Short stature	0	PALB2 CL E G H	79728	84				ORPHA	1	417	3503	26144	610355
HP:0004322	HP:0004322	Short stature	0	PAM16 CL E G H	51025	613320	Spondylometaphyseal dysplasia, megarbane-dagher-melki type	613320	C2750075	OMIM	1	2	44	29679	614336
HP:0004322	HP:0004322	Short stature	0	PAPSS2 CL E G H	9060	612847	Spondyloepimetaphyseal dysplasia, pakistani type	612847	C2748515	OMIM	1	22	73	8604	603005
HP:0004322	HP:0004322	Short stature	0	PARN CL E G H	5073	3322				ORPHA	1	29	166	8609	604212
HP:0004322	HP:0004322	Short stature	0	PARN CL E G H	5073	1775	Chromosome 4, monosomy 4p14 p16		CN036837	ORPHA	1	29	166	8609	604212
HP:0004322	HP:0004322	Short stature	0	PAX1 CL E G H	5075	2792	Hyperbilirubinemia type 1			ORPHA	1	10	52	8615	167411
HP:0004322	HP:0004322	Short stature	0	PAX6 CL E G H	5080	893				ORPHA	1	571	496	8620	607108
HP:0004322	HP:0004322	Short stature	0	PAX8 CL E G H	7849	95712				ORPHA	1	51	143	8622	167415
HP:0004322	HP:0004322	Short stature	0	PAX8 CL E G H	7849	95713				ORPHA	1	51	143	8622	167415
HP:0004322	HP:0004322	Short stature	0	PAX8 CL E G H	7849	95720				ORPHA	1	51	143	8622	167415
HP:0004322	HP:0004322	Short stature	0	PCCA CL E G H	5095	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	149	387	8653	232000
HP:0004322	HP:0004322	Short stature	0	PCCB CL E G H	5096	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	131	301	8654	232050
HP:0004322	HP:0004322	Short stature	0	PCLO CL E G H	27445	608027	Pontocerebellar hypoplasia type 3	608027	C1842687	OMIM	1	6	120	13406	604918
HP:0004322	HP:0004322	Short stature	0	PCNA CL E G H	5111	615919	Ataxia-telangiectasia-like disorder 2	615919	C4014676	OMIM	1	1	40	8729	176740
HP:0004322	HP:0004322	Short stature	0	PCNT CL E G H	5116	808	Baker Vinters syndrome			ORPHA	1	88	885	16068	605925
HP:0004322	HP:0004322	Short stature	0	PDE11A CL E G H	50940	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	1	20	114	8773	604961
HP:0004322	HP:0004322	Short stature	0	PDE3A CL E G H	5139	1276				ORPHA	1	11	73	8778	123805
HP:0004322	HP:0004322	Short stature	0	PDE3A CL E G H	5139	112410	Brachydactyly with hypertension	112410	C1862170	OMIM	1	11	73	8778	123805
HP:0004322	HP:0004322	Short stature	0	PDE4D CL E G H	5144	950				ORPHA	1	45	231	8783	600129
HP:0004322	HP:0004322	Short stature	0	PDE6D CL E G H	5147	2754				ORPHA	1	1	39	8788	602676
HP:0004322	HP:0004322	Short stature	0	PDE8B CL E G H	8622	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	1	11	134	8794	603390
HP:0004322	HP:0004322	Short stature	0	PEX1 CL E G H	5189	772				ORPHA	1	140	489	8850	602136
HP:0004322	HP:0004322	Short stature	0	PEX1 CL E G H	5189	912				ORPHA	1	140	489	8850	602136
HP:0004322	HP:0004322	Short stature	0	PEX1 CL E G H	5189	3220				ORPHA	1	140